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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs2304545

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:208347983 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.304092 (80490/264690, TOPMED)
G=0.176770 (44450/251456, GnomAD_exome)
G=0.296509 (41532/140070, GnomAD) (+ 23 more)
G=0.190136 (23081/121392, ExAC)
G=0.35293 (27776/78702, PAGE_STUDY)
G=0.21450 (14504/67618, ALFA)
G=0.07085 (2002/28256, 14KJPN)
G=0.06903 (1157/16760, 8.3KJPN)
G=0.31693 (4122/13006, GO-ESP)
G=0.2945 (1886/6404, 1000G_30x)
G=0.2839 (1422/5008, 1000G)
G=0.1371 (614/4480, Estonian)
G=0.1627 (627/3854, ALSPAC)
G=0.1637 (607/3708, TWINSUK)
G=0.0621 (182/2930, KOREAN)
G=0.3372 (638/1892, HapMap)
G=0.0737 (135/1832, Korea1K)
G=0.140 (140/998, GoNL)
G=0.086 (53/616, Vietnamese)
G=0.137 (82/600, NorthernSweden)
G=0.150 (80/534, MGP)
G=0.123 (61/494, SGDP_PRJ)
G=0.128 (39/304, FINRISK)
G=0.162 (35/216, Qatari)
G=0.15 (8/54, Siberian)
G=0.10 (4/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PIKFYVE : Synonymous Variant
Publications
1 citation
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 83970 G=0.23343 A=0.76657
European Sub 59580 G=0.15764 A=0.84236
African Sub 12846 G=0.61778 A=0.38222
African Others Sub 434 G=0.705 A=0.295
African American Sub 12412 G=0.61473 A=0.38527
Asian Sub 228 G=0.167 A=0.833
East Asian Sub 170 G=0.165 A=0.835
Other Asian Sub 58 G=0.17 A=0.83
Latin American 1 Sub 534 G=0.307 A=0.693
Latin American 2 Sub 772 G=0.131 A=0.869
South Asian Sub 122 G=0.230 A=0.770
Other Sub 9888 G=0.1964 A=0.8036


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.304092 A=0.695908
gnomAD - Exomes Global Study-wide 251456 G=0.176770 A=0.823230
gnomAD - Exomes European Sub 135388 G=0.150043 A=0.849957
gnomAD - Exomes Asian Sub 49006 G=0.15470 A=0.84530
gnomAD - Exomes American Sub 34586 G=0.11265 A=0.88735
gnomAD - Exomes African Sub 16256 G=0.63644 A=0.36356
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=0.13185 A=0.86815
gnomAD - Exomes Other Sub 6140 G=0.1603 A=0.8397
gnomAD - Genomes Global Study-wide 140070 G=0.296509 A=0.703491
gnomAD - Genomes European Sub 75918 G=0.15396 A=0.84604
gnomAD - Genomes African Sub 41910 G=0.62205 A=0.37795
gnomAD - Genomes American Sub 13640 G=0.17551 A=0.82449
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.1363 A=0.8637
gnomAD - Genomes East Asian Sub 3132 G=0.1124 A=0.8876
gnomAD - Genomes Other Sub 2146 G=0.2679 A=0.7321
ExAC Global Study-wide 121392 G=0.190136 A=0.809864
ExAC Europe Sub 73348 G=0.15188 A=0.84812
ExAC Asian Sub 25160 G=0.15505 A=0.84495
ExAC American Sub 11570 G=0.11029 A=0.88971
ExAC African Sub 10406 G=0.63752 A=0.36248
ExAC Other Sub 908 G=0.143 A=0.857
The PAGE Study Global Study-wide 78702 G=0.35293 A=0.64707
The PAGE Study AfricanAmerican Sub 32516 G=0.60469 A=0.39531
The PAGE Study Mexican Sub 10810 G=0.12202 A=0.87798
The PAGE Study Asian Sub 8318 G=0.0826 A=0.9174
The PAGE Study PuertoRican Sub 7918 G=0.2893 A=0.7107
The PAGE Study NativeHawaiian Sub 4534 G=0.0823 A=0.9177
The PAGE Study Cuban Sub 4230 G=0.2071 A=0.7929
The PAGE Study Dominican Sub 3828 G=0.3835 A=0.6165
The PAGE Study CentralAmerican Sub 2450 G=0.1669 A=0.8331
The PAGE Study SouthAmerican Sub 1982 G=0.1544 A=0.8456
The PAGE Study NativeAmerican Sub 1260 G=0.1786 A=0.8214
The PAGE Study SouthAsian Sub 856 G=0.187 A=0.813
Allele Frequency Aggregator Total Global 67618 G=0.21450 A=0.78550
Allele Frequency Aggregator European Sub 49500 G=0.15588 A=0.84412
Allele Frequency Aggregator Other Sub 8454 G=0.1894 A=0.8106
Allele Frequency Aggregator African Sub 8008 G=0.6064 A=0.3936
Allele Frequency Aggregator Latin American 2 Sub 772 G=0.131 A=0.869
Allele Frequency Aggregator Latin American 1 Sub 534 G=0.307 A=0.693
Allele Frequency Aggregator Asian Sub 228 G=0.167 A=0.833
Allele Frequency Aggregator South Asian Sub 122 G=0.230 A=0.770
14KJPN JAPANESE Study-wide 28256 G=0.07085 A=0.92915
8.3KJPN JAPANESE Study-wide 16760 G=0.06903 A=0.93097
GO Exome Sequencing Project Global Study-wide 13006 G=0.31693 A=0.68307
GO Exome Sequencing Project European American Sub 8600 G=0.1595 A=0.8405
GO Exome Sequencing Project African American Sub 4406 G=0.6241 A=0.3759
1000Genomes_30x Global Study-wide 6404 G=0.2945 A=0.7055
1000Genomes_30x African Sub 1786 G=0.7004 A=0.2996
1000Genomes_30x Europe Sub 1266 G=0.1398 A=0.8602
1000Genomes_30x South Asian Sub 1202 G=0.1664 A=0.8336
1000Genomes_30x East Asian Sub 1170 G=0.0897 A=0.9103
1000Genomes_30x American Sub 980 G=0.156 A=0.844
1000Genomes Global Study-wide 5008 G=0.2839 A=0.7161
1000Genomes African Sub 1322 G=0.6959 A=0.3041
1000Genomes East Asian Sub 1008 G=0.0883 A=0.9117
1000Genomes Europe Sub 1006 G=0.1342 A=0.8658
1000Genomes South Asian Sub 978 G=0.170 A=0.830
1000Genomes American Sub 694 G=0.161 A=0.839
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1371 A=0.8629
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1627 A=0.8373
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1637 A=0.8363
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0621 A=0.9379, C=0.0000, T=0.0000
HapMap Global Study-wide 1892 G=0.3372 A=0.6628
HapMap American Sub 770 G=0.181 A=0.819
HapMap African Sub 692 G=0.656 A=0.344
HapMap Asian Sub 254 G=0.087 A=0.913
HapMap Europe Sub 176 G=0.131 A=0.869
Korean Genome Project KOREAN Study-wide 1832 G=0.0737 A=0.9263
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.140 A=0.860
A Vietnamese Genetic Variation Database Global Study-wide 616 G=0.086 A=0.914
Northern Sweden ACPOP Study-wide 600 G=0.137 A=0.863
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.150 A=0.850
SGDP_PRJ Global Study-wide 494 G=0.123 A=0.877
FINRISK Finnish from FINRISK project Study-wide 304 G=0.128 A=0.872
Qatari Global Study-wide 216 G=0.162 A=0.838
Siberian Global Study-wide 54 G=0.15 A=0.85
The Danish reference pan genome Danish Study-wide 40 G=0.10 A=0.90
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 2 NC_000002.12:g.208347983G>A
GRCh38.p14 chr 2 NC_000002.12:g.208347983G>C
GRCh38.p14 chr 2 NC_000002.12:g.208347983G>T
GRCh37.p13 chr 2 NC_000002.11:g.209212707G>A
GRCh37.p13 chr 2 NC_000002.11:g.209212707G>C
GRCh37.p13 chr 2 NC_000002.11:g.209212707G>T
PIKFYVE RefSeqGene NG_021188.1:g.86717G>A
PIKFYVE RefSeqGene NG_021188.1:g.86717G>C
PIKFYVE RefSeqGene NG_021188.1:g.86717G>T
Gene: PIKFYVE, phosphoinositide kinase, FYVE-type zinc finger containing (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PIKFYVE transcript variant 4 NM_001178000.2:c. N/A Genic Downstream Transcript Variant
PIKFYVE transcript variant 3 NM_152671.4:c. N/A Genic Downstream Transcript Variant
PIKFYVE transcript variant 2 NM_015040.4:c.5334G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform 2 NP_055855.2:p.Thr1778= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant 2 NM_015040.4:c.5334G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform 2 NP_055855.2:p.Thr1778= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant 2 NM_015040.4:c.5334G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform 2 NP_055855.2:p.Thr1778= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X7 XM_011510782.4:c.5245+183…

XM_011510782.4:c.5245+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X11 XM_047443670.1:c.5209+183…

XM_047443670.1:c.5209+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X14 XM_047443673.1:c.5191+183…

XM_047443673.1:c.5191+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X21 XM_047443677.1:c.5041+183…

XM_047443677.1:c.5041+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X22 XM_047443679.1:c.5023+183…

XM_047443679.1:c.5023+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X25 XM_047443681.1:c.4918+183…

XM_047443681.1:c.4918+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X28 XM_047443686.1:c.4900+183…

XM_047443686.1:c.4900+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X31 XM_047443689.1:c.4768+183…

XM_047443689.1:c.4768+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X33 XM_047443690.1:c.4750+183…

XM_047443690.1:c.4750+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X35 XM_047443696.1:c.4732+183…

XM_047443696.1:c.4732+1836G>A

 		N/A Intron Variant
PIKFYVE transcript variant X38 XM_011510792.4:c. N/A Genic Downstream Transcript Variant
PIKFYVE transcript variant X1 XM_011510778.4:c.5370G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509080.1:p.Thr1790= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X1 XM_011510778.4:c.5370G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509080.1:p.Thr1790= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X1 XM_011510778.4:c.5370G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509080.1:p.Thr1790= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X2 XM_011510779.3:c.5370G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509081.1:p.Thr1790= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X2 XM_011510779.3:c.5370G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509081.1:p.Thr1790= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X2 XM_011510779.3:c.5370G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509081.1:p.Thr1790= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X3 XM_011510780.3:c.5367G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X2 XP_011509082.1:p.Thr1789= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X3 XM_011510780.3:c.5367G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X2 XP_011509082.1:p.Thr1789= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X3 XM_011510780.3:c.5367G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X2 XP_011509082.1:p.Thr1789= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X4 XM_011510781.4:c.5352G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X3 XP_011509083.1:p.Thr1784= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X4 XM_011510781.4:c.5352G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X3 XP_011509083.1:p.Thr1784= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X4 XM_011510781.4:c.5352G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X3 XP_011509083.1:p.Thr1784= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X5 XM_047443667.1:c.5334G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X4 XP_047299623.1:p.Thr1778= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X5 XM_047443667.1:c.5334G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X4 XP_047299623.1:p.Thr1778= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X5 XM_047443667.1:c.5334G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X4 XP_047299623.1:p.Thr1778= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X6 XM_017003568.2:c.5316G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X5 XP_016859057.1:p.Thr1772= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X6 XM_017003568.2:c.5316G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X5 XP_016859057.1:p.Thr1772= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X6 XM_017003568.2:c.5316G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X5 XP_016859057.1:p.Thr1772= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X8 XM_011510783.4:c.5202G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X7 XP_011509085.1:p.Thr1734= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X8 XM_011510783.4:c.5202G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X7 XP_011509085.1:p.Thr1734= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X8 XM_011510783.4:c.5202G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X7 XP_011509085.1:p.Thr1734= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X9 XM_011510784.3:c.5199G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X8 XP_011509086.1:p.Thr1733= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X9 XM_011510784.3:c.5199G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X8 XP_011509086.1:p.Thr1733= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X9 XM_011510784.3:c.5199G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X8 XP_011509086.1:p.Thr1733= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X10 XM_011510785.4:c.5184G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X9 XP_011509087.1:p.Thr1728= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X10 XM_011510785.4:c.5184G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X9 XP_011509087.1:p.Thr1728= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X10 XM_011510785.4:c.5184G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X9 XP_011509087.1:p.Thr1728= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X12 XM_047443671.1:c.5166G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299627.1:p.Thr1722= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X12 XM_047443671.1:c.5166G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299627.1:p.Thr1722= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X12 XM_047443671.1:c.5166G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299627.1:p.Thr1722= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X13 XM_047443672.1:c.5166G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299628.1:p.Thr1722= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X13 XM_047443672.1:c.5166G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299628.1:p.Thr1722= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X13 XM_047443672.1:c.5166G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299628.1:p.Thr1722= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X15 XM_017003569.2:c.5148G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 XP_016859058.1:p.Thr1716= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X15 XM_017003569.2:c.5148G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 XP_016859058.1:p.Thr1716= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X15 XM_017003569.2:c.5148G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 XP_016859058.1:p.Thr1716= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X16 XM_011510786.4:c.5079G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 XP_011509088.1:p.Thr1693= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X16 XM_011510786.4:c.5079G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 XP_011509088.1:p.Thr1693= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X16 XM_011510786.4:c.5079G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 XP_011509088.1:p.Thr1693= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X17 XM_011510787.2:c.5076G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X15 XP_011509089.1:p.Thr1692= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X17 XM_011510787.2:c.5076G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X15 XP_011509089.1:p.Thr1692= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X17 XM_011510787.2:c.5076G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X15 XP_011509089.1:p.Thr1692= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X18 XM_011510788.2:c.5043G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_011509090.1:p.Thr1681= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X18 XM_011510788.2:c.5043G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_011509090.1:p.Thr1681= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X18 XM_011510788.2:c.5043G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_011509090.1:p.Thr1681= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X19 XM_047443674.1:c.5043G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_047299630.1:p.Thr1681= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X19 XM_047443674.1:c.5043G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_047299630.1:p.Thr1681= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X19 XM_047443674.1:c.5043G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_047299630.1:p.Thr1681= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X20 XM_047443676.1:c.5025G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X17 XP_047299632.1:p.Thr1675= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X20 XM_047443676.1:c.5025G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X17 XP_047299632.1:p.Thr1675= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X20 XM_047443676.1:c.5025G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X17 XP_047299632.1:p.Thr1675= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X23 XM_047443680.1:c.4911G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X20 XP_047299636.1:p.Thr1637= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X23 XM_047443680.1:c.4911G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X20 XP_047299636.1:p.Thr1637= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X23 XM_047443680.1:c.4911G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X20 XP_047299636.1:p.Thr1637= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X24 XM_011510789.3:c.4893G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X21 XP_011509091.1:p.Thr1631= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X24 XM_011510789.3:c.4893G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X21 XP_011509091.1:p.Thr1631= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X24 XM_011510789.3:c.4893G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X21 XP_011509091.1:p.Thr1631= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X26 XM_017003570.2:c.4875G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X23 XP_016859059.1:p.Thr1625= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X26 XM_017003570.2:c.4875G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X23 XP_016859059.1:p.Thr1625= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X26 XM_017003570.2:c.4875G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X23 XP_016859059.1:p.Thr1625= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X27 XM_047443682.1:c.4875G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X24 XP_047299638.1:p.Thr1625= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X27 XM_047443682.1:c.4875G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X24 XP_047299638.1:p.Thr1625= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X27 XM_047443682.1:c.4875G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X24 XP_047299638.1:p.Thr1625= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X29 XM_047443687.1:c.4857G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X26 XP_047299643.1:p.Thr1619= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X29 XM_047443687.1:c.4857G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X26 XP_047299643.1:p.Thr1619= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X29 XM_047443687.1:c.4857G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X26 XP_047299643.1:p.Thr1619= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X32 XM_017003571.2:c.4725G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X28 XP_016859060.1:p.Thr1575= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X32 XM_017003571.2:c.4725G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X28 XP_016859060.1:p.Thr1575= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X32 XM_017003571.2:c.4725G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X28 XP_016859060.1:p.Thr1575= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X34 XM_047443695.1:c.4707G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X30 XP_047299651.1:p.Thr1569= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X34 XM_047443695.1:c.4707G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X30 XP_047299651.1:p.Thr1569= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X34 XM_047443695.1:c.4707G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X30 XP_047299651.1:p.Thr1569= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X36 XM_047443698.1:c.4377G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_047299654.1:p.Thr1459= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X36 XM_047443698.1:c.4377G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_047299654.1:p.Thr1459= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X36 XM_047443698.1:c.4377G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_047299654.1:p.Thr1459= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X37 XM_017003574.2:c.4377G>A T [ACG] > T [ACA] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_016859063.1:p.Thr1459= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X37 XM_017003574.2:c.4377G>C T [ACG] > T [ACC] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_016859063.1:p.Thr1459= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X37 XM_017003574.2:c.4377G>T T [ACG] > T [ACT] Coding Sequence Variant
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_016859063.1:p.Thr1459= T (Thr) > T (Thr) Synonymous Variant
PIKFYVE transcript variant X30 XR_007070607.1:n.5540G>A N/A Non Coding Transcript Variant
PIKFYVE transcript variant X30 XR_007070607.1:n.5540G>C N/A Non Coding Transcript Variant
PIKFYVE transcript variant X30 XR_007070607.1:n.5540G>T N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 284331 )
ClinVar Accession Disease Names Clinical Significance
RCV000288994.5 Fleck corneal dystrophy Benign
RCV002057646.3 not provided Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C T
GRCh38.p14 chr 2 NC_000002.12:g.208347983= NC_000002.12:g.208347983G>A NC_000002.12:g.208347983G>C NC_000002.12:g.208347983G>T
GRCh37.p13 chr 2 NC_000002.11:g.209212707= NC_000002.11:g.209212707G>A NC_000002.11:g.209212707G>C NC_000002.11:g.209212707G>T
PIKFYVE RefSeqGene NG_021188.1:g.86717= NG_021188.1:g.86717G>A NG_021188.1:g.86717G>C NG_021188.1:g.86717G>T
PIKFYVE transcript variant 2 NM_015040.4:c.5334= NM_015040.4:c.5334G>A NM_015040.4:c.5334G>C NM_015040.4:c.5334G>T
PIKFYVE transcript variant 2 NM_015040.3:c.5334= NM_015040.3:c.5334G>A NM_015040.3:c.5334G>C NM_015040.3:c.5334G>T
PIKFYVE transcript variant X1 XM_011510778.4:c.5370= XM_011510778.4:c.5370G>A XM_011510778.4:c.5370G>C XM_011510778.4:c.5370G>T
PIKFYVE transcript variant X1 XM_011510778.3:c.5370= XM_011510778.3:c.5370G>A XM_011510778.3:c.5370G>C XM_011510778.3:c.5370G>T
PIKFYVE transcript variant X1 XM_011510778.2:c.5370= XM_011510778.2:c.5370G>A XM_011510778.2:c.5370G>C XM_011510778.2:c.5370G>T
PIKFYVE transcript variant X1 XM_011510778.1:c.5370= XM_011510778.1:c.5370G>A XM_011510778.1:c.5370G>C XM_011510778.1:c.5370G>T
PIKFYVE transcript variant X4 XM_011510781.4:c.5352= XM_011510781.4:c.5352G>A XM_011510781.4:c.5352G>C XM_011510781.4:c.5352G>T
PIKFYVE transcript variant X4 XM_011510781.3:c.5352= XM_011510781.3:c.5352G>A XM_011510781.3:c.5352G>C XM_011510781.3:c.5352G>T
PIKFYVE transcript variant X4 XM_011510781.2:c.5352= XM_011510781.2:c.5352G>A XM_011510781.2:c.5352G>C XM_011510781.2:c.5352G>T
PIKFYVE transcript variant X4 XM_011510781.1:c.5352= XM_011510781.1:c.5352G>A XM_011510781.1:c.5352G>C XM_011510781.1:c.5352G>T
PIKFYVE transcript variant X8 XM_011510783.4:c.5202= XM_011510783.4:c.5202G>A XM_011510783.4:c.5202G>C XM_011510783.4:c.5202G>T
PIKFYVE transcript variant X7 XM_011510783.3:c.5202= XM_011510783.3:c.5202G>A XM_011510783.3:c.5202G>C XM_011510783.3:c.5202G>T
PIKFYVE transcript variant X7 XM_011510783.2:c.5202= XM_011510783.2:c.5202G>A XM_011510783.2:c.5202G>C XM_011510783.2:c.5202G>T
PIKFYVE transcript variant X6 XM_011510783.1:c.5202= XM_011510783.1:c.5202G>A XM_011510783.1:c.5202G>C XM_011510783.1:c.5202G>T
PIKFYVE transcript variant X10 XM_011510785.4:c.5184= XM_011510785.4:c.5184G>A XM_011510785.4:c.5184G>C XM_011510785.4:c.5184G>T
PIKFYVE transcript variant X9 XM_011510785.3:c.5184= XM_011510785.3:c.5184G>A XM_011510785.3:c.5184G>C XM_011510785.3:c.5184G>T
PIKFYVE transcript variant X9 XM_011510785.2:c.5184= XM_011510785.2:c.5184G>A XM_011510785.2:c.5184G>C XM_011510785.2:c.5184G>T
PIKFYVE transcript variant X8 XM_011510785.1:c.5184= XM_011510785.1:c.5184G>A XM_011510785.1:c.5184G>C XM_011510785.1:c.5184G>T
PIKFYVE transcript variant X16 XM_011510786.4:c.5079= XM_011510786.4:c.5079G>A XM_011510786.4:c.5079G>C XM_011510786.4:c.5079G>T
PIKFYVE transcript variant X11 XM_011510786.3:c.5079= XM_011510786.3:c.5079G>A XM_011510786.3:c.5079G>C XM_011510786.3:c.5079G>T
PIKFYVE transcript variant X11 XM_011510786.2:c.5079= XM_011510786.2:c.5079G>A XM_011510786.2:c.5079G>C XM_011510786.2:c.5079G>T
PIKFYVE transcript variant X9 XM_011510786.1:c.5079= XM_011510786.1:c.5079G>A XM_011510786.1:c.5079G>C XM_011510786.1:c.5079G>T
PIKFYVE transcript variant X2 XM_011510779.3:c.5370= XM_011510779.3:c.5370G>A XM_011510779.3:c.5370G>C XM_011510779.3:c.5370G>T
PIKFYVE transcript variant X2 XM_011510779.2:c.5370= XM_011510779.2:c.5370G>A XM_011510779.2:c.5370G>C XM_011510779.2:c.5370G>T
PIKFYVE transcript variant X2 XM_011510779.1:c.5370= XM_011510779.1:c.5370G>A XM_011510779.1:c.5370G>C XM_011510779.1:c.5370G>T
PIKFYVE transcript variant X3 XM_011510780.3:c.5367= XM_011510780.3:c.5367G>A XM_011510780.3:c.5367G>C XM_011510780.3:c.5367G>T
PIKFYVE transcript variant X3 XM_011510780.2:c.5367= XM_011510780.2:c.5367G>A XM_011510780.2:c.5367G>C XM_011510780.2:c.5367G>T
PIKFYVE transcript variant X3 XM_011510780.1:c.5367= XM_011510780.1:c.5367G>A XM_011510780.1:c.5367G>C XM_011510780.1:c.5367G>T
PIKFYVE transcript variant X9 XM_011510784.3:c.5199= XM_011510784.3:c.5199G>A XM_011510784.3:c.5199G>C XM_011510784.3:c.5199G>T
PIKFYVE transcript variant X8 XM_011510784.2:c.5199= XM_011510784.2:c.5199G>A XM_011510784.2:c.5199G>C XM_011510784.2:c.5199G>T
PIKFYVE transcript variant X7 XM_011510784.1:c.5199= XM_011510784.1:c.5199G>A XM_011510784.1:c.5199G>C XM_011510784.1:c.5199G>T
PIKFYVE transcript variant X24 XM_011510789.3:c.4893= XM_011510789.3:c.4893G>A XM_011510789.3:c.4893G>C XM_011510789.3:c.4893G>T
PIKFYVE transcript variant X14 XM_011510789.2:c.4893= XM_011510789.2:c.4893G>A XM_011510789.2:c.4893G>C XM_011510789.2:c.4893G>T
PIKFYVE transcript variant X12 XM_011510789.1:c.4893= XM_011510789.1:c.4893G>A XM_011510789.1:c.4893G>C XM_011510789.1:c.4893G>T
PIKFYVE transcript variant X6 XM_017003568.2:c.5316= XM_017003568.2:c.5316G>A XM_017003568.2:c.5316G>C XM_017003568.2:c.5316G>T
PIKFYVE transcript variant X5 XM_017003568.1:c.5316= XM_017003568.1:c.5316G>A XM_017003568.1:c.5316G>C XM_017003568.1:c.5316G>T
PIKFYVE transcript variant X15 XM_017003569.2:c.5148= XM_017003569.2:c.5148G>A XM_017003569.2:c.5148G>C XM_017003569.2:c.5148G>T
PIKFYVE transcript variant X10 XM_017003569.1:c.5148= XM_017003569.1:c.5148G>A XM_017003569.1:c.5148G>C XM_017003569.1:c.5148G>T
PIKFYVE transcript variant X17 XM_011510787.2:c.5076= XM_011510787.2:c.5076G>A XM_011510787.2:c.5076G>C XM_011510787.2:c.5076G>T
PIKFYVE transcript variant X12 XM_011510787.1:c.5076= XM_011510787.1:c.5076G>A XM_011510787.1:c.5076G>C XM_011510787.1:c.5076G>T
PIKFYVE transcript variant X18 XM_011510788.2:c.5043= XM_011510788.2:c.5043G>A XM_011510788.2:c.5043G>C XM_011510788.2:c.5043G>T
PIKFYVE transcript variant X13 XM_011510788.1:c.5043= XM_011510788.1:c.5043G>A XM_011510788.1:c.5043G>C XM_011510788.1:c.5043G>T
PIKFYVE transcript variant X26 XM_017003570.2:c.4875= XM_017003570.2:c.4875G>A XM_017003570.2:c.4875G>C XM_017003570.2:c.4875G>T
PIKFYVE transcript variant X15 XM_017003570.1:c.4875= XM_017003570.1:c.4875G>A XM_017003570.1:c.4875G>C XM_017003570.1:c.4875G>T
PIKFYVE transcript variant X32 XM_017003571.2:c.4725= XM_017003571.2:c.4725G>A XM_017003571.2:c.4725G>C XM_017003571.2:c.4725G>T
PIKFYVE transcript variant X16 XM_017003571.1:c.4725= XM_017003571.1:c.4725G>A XM_017003571.1:c.4725G>C XM_017003571.1:c.4725G>T
PIKFYVE transcript variant X37 XM_017003574.2:c.4377= XM_017003574.2:c.4377G>A XM_017003574.2:c.4377G>C XM_017003574.2:c.4377G>T
PIKFYVE transcript variant X20 XM_017003574.1:c.4377= XM_017003574.1:c.4377G>A XM_017003574.1:c.4377G>C XM_017003574.1:c.4377G>T
PIKFYVE transcript variant X5 XM_047443667.1:c.5334= XM_047443667.1:c.5334G>A XM_047443667.1:c.5334G>C XM_047443667.1:c.5334G>T
PIKFYVE transcript variant X13 XM_047443672.1:c.5166= XM_047443672.1:c.5166G>A XM_047443672.1:c.5166G>C XM_047443672.1:c.5166G>T
PIKFYVE transcript variant X12 XM_047443671.1:c.5166= XM_047443671.1:c.5166G>A XM_047443671.1:c.5166G>C XM_047443671.1:c.5166G>T
PIKFYVE transcript variant X19 XM_047443674.1:c.5043= XM_047443674.1:c.5043G>A XM_047443674.1:c.5043G>C XM_047443674.1:c.5043G>T
PIKFYVE transcript variant X20 XM_047443676.1:c.5025= XM_047443676.1:c.5025G>A XM_047443676.1:c.5025G>C XM_047443676.1:c.5025G>T
PIKFYVE transcript variant X23 XM_047443680.1:c.4911= XM_047443680.1:c.4911G>A XM_047443680.1:c.4911G>C XM_047443680.1:c.4911G>T
PIKFYVE transcript variant X27 XM_047443682.1:c.4875= XM_047443682.1:c.4875G>A XM_047443682.1:c.4875G>C XM_047443682.1:c.4875G>T
PIKFYVE transcript variant X29 XM_047443687.1:c.4857= XM_047443687.1:c.4857G>A XM_047443687.1:c.4857G>C XM_047443687.1:c.4857G>T
PIKFYVE transcript variant X34 XM_047443695.1:c.4707= XM_047443695.1:c.4707G>A XM_047443695.1:c.4707G>C XM_047443695.1:c.4707G>T
PIKFYVE transcript variant X36 XM_047443698.1:c.4377= XM_047443698.1:c.4377G>A XM_047443698.1:c.4377G>C XM_047443698.1:c.4377G>T
PIKFYVE transcript variant X30 XR_007070607.1:n.5540= XR_007070607.1:n.5540G>A XR_007070607.1:n.5540G>C XR_007070607.1:n.5540G>T
PIP5K3 transcript variant 1 NM_001002881.1:c.4377= NM_001002881.1:c.4377G>A NM_001002881.1:c.4377G>C NM_001002881.1:c.4377G>T
1-phosphatidylinositol 3-phosphate 5-kinase isoform 2 NP_055855.2:p.Thr1778= NP_055855.2:p.Thr1778= NP_055855.2:p.Thr1778= NP_055855.2:p.Thr1778=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509080.1:p.Thr1790= XP_011509080.1:p.Thr1790= XP_011509080.1:p.Thr1790= XP_011509080.1:p.Thr1790=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X3 XP_011509083.1:p.Thr1784= XP_011509083.1:p.Thr1784= XP_011509083.1:p.Thr1784= XP_011509083.1:p.Thr1784=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X7 XP_011509085.1:p.Thr1734= XP_011509085.1:p.Thr1734= XP_011509085.1:p.Thr1734= XP_011509085.1:p.Thr1734=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X9 XP_011509087.1:p.Thr1728= XP_011509087.1:p.Thr1728= XP_011509087.1:p.Thr1728= XP_011509087.1:p.Thr1728=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X14 XP_011509088.1:p.Thr1693= XP_011509088.1:p.Thr1693= XP_011509088.1:p.Thr1693= XP_011509088.1:p.Thr1693=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X1 XP_011509081.1:p.Thr1790= XP_011509081.1:p.Thr1790= XP_011509081.1:p.Thr1790= XP_011509081.1:p.Thr1790=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X2 XP_011509082.1:p.Thr1789= XP_011509082.1:p.Thr1789= XP_011509082.1:p.Thr1789= XP_011509082.1:p.Thr1789=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X8 XP_011509086.1:p.Thr1733= XP_011509086.1:p.Thr1733= XP_011509086.1:p.Thr1733= XP_011509086.1:p.Thr1733=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X21 XP_011509091.1:p.Thr1631= XP_011509091.1:p.Thr1631= XP_011509091.1:p.Thr1631= XP_011509091.1:p.Thr1631=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X5 XP_016859057.1:p.Thr1772= XP_016859057.1:p.Thr1772= XP_016859057.1:p.Thr1772= XP_016859057.1:p.Thr1772=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X13 XP_016859058.1:p.Thr1716= XP_016859058.1:p.Thr1716= XP_016859058.1:p.Thr1716= XP_016859058.1:p.Thr1716=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X15 XP_011509089.1:p.Thr1692= XP_011509089.1:p.Thr1692= XP_011509089.1:p.Thr1692= XP_011509089.1:p.Thr1692=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_011509090.1:p.Thr1681= XP_011509090.1:p.Thr1681= XP_011509090.1:p.Thr1681= XP_011509090.1:p.Thr1681=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X23 XP_016859059.1:p.Thr1625= XP_016859059.1:p.Thr1625= XP_016859059.1:p.Thr1625= XP_016859059.1:p.Thr1625=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X28 XP_016859060.1:p.Thr1575= XP_016859060.1:p.Thr1575= XP_016859060.1:p.Thr1575= XP_016859060.1:p.Thr1575=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_016859063.1:p.Thr1459= XP_016859063.1:p.Thr1459= XP_016859063.1:p.Thr1459= XP_016859063.1:p.Thr1459=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X4 XP_047299623.1:p.Thr1778= XP_047299623.1:p.Thr1778= XP_047299623.1:p.Thr1778= XP_047299623.1:p.Thr1778=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299628.1:p.Thr1722= XP_047299628.1:p.Thr1722= XP_047299628.1:p.Thr1722= XP_047299628.1:p.Thr1722=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X11 XP_047299627.1:p.Thr1722= XP_047299627.1:p.Thr1722= XP_047299627.1:p.Thr1722= XP_047299627.1:p.Thr1722=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X16 XP_047299630.1:p.Thr1681= XP_047299630.1:p.Thr1681= XP_047299630.1:p.Thr1681= XP_047299630.1:p.Thr1681=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X17 XP_047299632.1:p.Thr1675= XP_047299632.1:p.Thr1675= XP_047299632.1:p.Thr1675= XP_047299632.1:p.Thr1675=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X20 XP_047299636.1:p.Thr1637= XP_047299636.1:p.Thr1637= XP_047299636.1:p.Thr1637= XP_047299636.1:p.Thr1637=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X24 XP_047299638.1:p.Thr1625= XP_047299638.1:p.Thr1625= XP_047299638.1:p.Thr1625= XP_047299638.1:p.Thr1625=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X26 XP_047299643.1:p.Thr1619= XP_047299643.1:p.Thr1619= XP_047299643.1:p.Thr1619= XP_047299643.1:p.Thr1619=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X30 XP_047299651.1:p.Thr1569= XP_047299651.1:p.Thr1569= XP_047299651.1:p.Thr1569= XP_047299651.1:p.Thr1569=
1-phosphatidylinositol 3-phosphate 5-kinase isoform X32 XP_047299654.1:p.Thr1459= XP_047299654.1:p.Thr1459= XP_047299654.1:p.Thr1459= XP_047299654.1:p.Thr1459=
PIKFYVE transcript variant X7 XM_011510782.4:c.5245+1836= XM_011510782.4:c.5245+1836G>A XM_011510782.4:c.5245+1836G>C XM_011510782.4:c.5245+1836G>T
PIKFYVE transcript variant X11 XM_047443670.1:c.5209+1836= XM_047443670.1:c.5209+1836G>A XM_047443670.1:c.5209+1836G>C XM_047443670.1:c.5209+1836G>T
PIKFYVE transcript variant X14 XM_047443673.1:c.5191+1836= XM_047443673.1:c.5191+1836G>A XM_047443673.1:c.5191+1836G>C XM_047443673.1:c.5191+1836G>T
PIKFYVE transcript variant X21 XM_047443677.1:c.5041+1836= XM_047443677.1:c.5041+1836G>A XM_047443677.1:c.5041+1836G>C XM_047443677.1:c.5041+1836G>T
PIKFYVE transcript variant X22 XM_047443679.1:c.5023+1836= XM_047443679.1:c.5023+1836G>A XM_047443679.1:c.5023+1836G>C XM_047443679.1:c.5023+1836G>T
PIKFYVE transcript variant X25 XM_047443681.1:c.4918+1836= XM_047443681.1:c.4918+1836G>A XM_047443681.1:c.4918+1836G>C XM_047443681.1:c.4918+1836G>T
PIKFYVE transcript variant X28 XM_047443686.1:c.4900+1836= XM_047443686.1:c.4900+1836G>A XM_047443686.1:c.4900+1836G>C XM_047443686.1:c.4900+1836G>T
PIKFYVE transcript variant X31 XM_047443689.1:c.4768+1836= XM_047443689.1:c.4768+1836G>A XM_047443689.1:c.4768+1836G>C XM_047443689.1:c.4768+1836G>T
PIKFYVE transcript variant X33 XM_047443690.1:c.4750+1836= XM_047443690.1:c.4750+1836G>A XM_047443690.1:c.4750+1836G>C XM_047443690.1:c.4750+1836G>T
PIKFYVE transcript variant X35 XM_047443696.1:c.4732+1836= XM_047443696.1:c.4732+1836G>A XM_047443696.1:c.4732+1836G>C XM_047443696.1:c.4732+1836G>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

129 SubSNP, 26 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3251487 Sep 28, 2001 (100)
2 WUGSC_SSAHASNP ss14488117 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss19434439 Feb 27, 2004 (120)
4 SSAHASNP ss21724344 Apr 05, 2004 (121)
5 APPLERA_GI ss48406947 Mar 14, 2006 (126)
6 ILLUMINA ss65738182 Oct 15, 2006 (127)
7 ILLUMINA ss74869549 Dec 07, 2007 (129)
8 SI_EXO ss76898469 Dec 07, 2007 (129)
9 HGSV ss78473701 Dec 07, 2007 (129)
10 HGSV ss83836564 Dec 14, 2007 (130)
11 CANCER-GENOME ss86345131 Mar 23, 2008 (129)
12 BCMHGSC_JDW ss91525065 Mar 24, 2008 (129)
13 BGI ss106157341 Feb 04, 2009 (130)
14 1000GENOMES ss110656917 Jan 25, 2009 (130)
15 1000GENOMES ss111571310 Jan 25, 2009 (130)
16 KRIBB_YJKIM ss119430387 Dec 01, 2009 (131)
17 ENSEMBL ss132905010 Dec 01, 2009 (131)
18 ENSEMBL ss138619787 Dec 01, 2009 (131)
19 GMI ss154625083 Dec 01, 2009 (131)
20 SEATTLESEQ ss159703561 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss165360597 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss165864731 Jul 04, 2010 (132)
23 ILLUMINA ss173278833 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss205686974 Jul 04, 2010 (132)
25 1000GENOMES ss219778368 Jul 14, 2010 (132)
26 1000GENOMES ss231562265 Jul 14, 2010 (132)
27 1000GENOMES ss239028534 Jul 15, 2010 (132)
28 BL ss253842540 May 09, 2011 (134)
29 GMI ss276876796 May 04, 2012 (137)
30 GMI ss284529947 Apr 25, 2013 (138)
31 PJP ss292475837 May 09, 2011 (134)
32 NHLBI-ESP ss342095532 May 09, 2011 (134)
33 ILLUMINA ss483019442 May 04, 2012 (137)
34 ILLUMINA ss484001428 May 04, 2012 (137)
35 1000GENOMES ss489849297 May 04, 2012 (137)
36 CLINSEQ_SNP ss491798981 May 04, 2012 (137)
37 ILLUMINA ss535024196 Sep 08, 2015 (146)
38 SSMP ss649848158 Apr 25, 2013 (138)
39 ILLUMINA ss780121977 Sep 08, 2015 (146)
40 ILLUMINA ss781954516 Sep 08, 2015 (146)
41 ILLUMINA ss835604962 Sep 08, 2015 (146)
42 JMKIDD_LAB ss974445474 Aug 21, 2014 (142)
43 EVA-GONL ss977897358 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1067444675 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1069891870 Aug 21, 2014 (142)
46 1000GENOMES ss1301408916 Aug 21, 2014 (142)
47 DDI ss1428892160 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1579297221 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584023523 Apr 01, 2015 (144)
50 EVA_DECODE ss1587350068 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1605667292 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1648661325 Apr 01, 2015 (144)
53 EVA_EXAC ss1686706666 Apr 01, 2015 (144)
54 EVA_MGP ss1710994648 Apr 01, 2015 (144)
55 EVA_SVP ss1712526429 Apr 01, 2015 (144)
56 HAMMER_LAB ss1798263819 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1921142261 Feb 12, 2016 (147)
58 ILLUMINA ss1958499278 Feb 12, 2016 (147)
59 GENOMED ss1969009553 Jul 19, 2016 (147)
60 JJLAB ss2021115704 Sep 14, 2016 (149)
61 USC_VALOUEV ss2149180394 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2238658500 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2625059467 Nov 08, 2017 (151)
64 ILLUMINA ss2633732534 Nov 08, 2017 (151)
65 GRF ss2703828675 Nov 08, 2017 (151)
66 GNOMAD ss2733287573 Nov 08, 2017 (151)
67 GNOMAD ss2746866726 Nov 08, 2017 (151)
68 GNOMAD ss2785662832 Nov 08, 2017 (151)
69 SWEGEN ss2991261992 Nov 08, 2017 (151)
70 ILLUMINA ss3022063154 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3024316324 Nov 08, 2017 (151)
72 CSHL ss3344713354 Nov 08, 2017 (151)
73 ILLUMINA ss3628273498 Oct 11, 2018 (152)
74 ILLUMINA ss3631692790 Oct 11, 2018 (152)
75 ILLUMINA ss3638315440 Oct 11, 2018 (152)
76 ILLUMINA ss3642151797 Oct 11, 2018 (152)
77 ILLUMINA ss3643280460 Oct 11, 2018 (152)
78 OMUKHERJEE_ADBS ss3646277711 Oct 11, 2018 (152)
79 URBANLAB ss3647260126 Oct 11, 2018 (152)
80 ILLUMINA ss3652513722 Oct 11, 2018 (152)
81 EGCUT_WGS ss3659152583 Jul 13, 2019 (153)
82 EVA_DECODE ss3705906599 Jul 13, 2019 (153)
83 ILLUMINA ss3725866712 Jul 13, 2019 (153)
84 ACPOP ss3729318975 Jul 13, 2019 (153)
85 EVA ss3758013225 Jul 13, 2019 (153)
86 PAGE_CC ss3770981426 Jul 13, 2019 (153)
87 PACBIO ss3784137012 Jul 13, 2019 (153)
88 PACBIO ss3789677509 Jul 13, 2019 (153)
89 PACBIO ss3794550668 Jul 13, 2019 (153)
90 KHV_HUMAN_GENOMES ss3802372092 Jul 13, 2019 (153)
91 EVA ss3823849182 Apr 25, 2020 (154)
92 EVA ss3825617738 Apr 25, 2020 (154)
93 EVA ss3827474608 Apr 25, 2020 (154)
94 EVA ss3837156785 Apr 25, 2020 (154)
95 EVA ss3842578224 Apr 25, 2020 (154)
96 SGDP_PRJ ss3854470190 Apr 25, 2020 (154)
97 KRGDB ss3900180141 Apr 25, 2020 (154)
98 KOGIC ss3949973609 Apr 25, 2020 (154)
99 FSA-LAB ss3984200548 Apr 26, 2021 (155)
100 FSA-LAB ss3984200549 Apr 26, 2021 (155)
101 EVA ss3986020915 Apr 26, 2021 (155)
102 EVA ss3986212575 Apr 26, 2021 (155)
103 EVA ss4017046466 Apr 26, 2021 (155)
104 TOPMED ss4542578897 Apr 26, 2021 (155)
105 TOMMO_GENOMICS ss5156235712 Apr 26, 2021 (155)
106 EVA ss5236977621 Apr 26, 2021 (155)
107 EVA ss5237637824 Oct 13, 2022 (156)
108 1000G_HIGH_COVERAGE ss5251827242 Oct 13, 2022 (156)
109 TRAN_CS_UWATERLOO ss5314404406 Oct 13, 2022 (156)
110 EVA ss5314804106 Oct 13, 2022 (156)
111 EVA ss5335660239 Oct 13, 2022 (156)
112 HUGCELL_USP ss5451459954 Oct 13, 2022 (156)
113 EVA ss5506774833 Oct 13, 2022 (156)
114 1000G_HIGH_COVERAGE ss5529067794 Oct 13, 2022 (156)
115 EVA ss5623923344 Oct 13, 2022 (156)
116 EVA ss5624107615 Oct 13, 2022 (156)
117 SANFORD_IMAGENETICS ss5630835199 Oct 13, 2022 (156)
118 TOMMO_GENOMICS ss5687044663 Oct 13, 2022 (156)
119 EVA ss5800049817 Oct 13, 2022 (156)
120 EVA ss5800101319 Oct 13, 2022 (156)
121 YY_MCH ss5803172782 Oct 13, 2022 (156)
122 EVA ss5821509515 Oct 13, 2022 (156)
123 EVA ss5848533640 Oct 13, 2022 (156)
124 EVA ss5852928398 Oct 13, 2022 (156)
125 EVA ss5934468773 Oct 13, 2022 (156)
126 EVA ss5936518883 Oct 13, 2022 (156)
127 EVA ss5957085007 Oct 13, 2022 (156)
128 EVA ss5980109022 Oct 13, 2022 (156)
129 EVA ss5981210595 Oct 13, 2022 (156)
130 1000Genomes NC_000002.11 - 209212707 Oct 11, 2018 (152)
131 1000Genomes_30x NC_000002.12 - 208347983 Oct 13, 2022 (156)
132 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 209212707 Oct 11, 2018 (152)
133 Genetic variation in the Estonian population NC_000002.11 - 209212707 Oct 11, 2018 (152)
134 ExAC NC_000002.11 - 209212707 Oct 11, 2018 (152)
135 FINRISK NC_000002.11 - 209212707 Apr 25, 2020 (154)
136 The Danish reference pan genome NC_000002.11 - 209212707 Apr 25, 2020 (154)
137 gnomAD - Genomes NC_000002.12 - 208347983 Apr 26, 2021 (155)
138 gnomAD - Exomes NC_000002.11 - 209212707 Jul 13, 2019 (153)
139 GO Exome Sequencing Project NC_000002.11 - 209212707 Oct 11, 2018 (152)
140 Genome of the Netherlands Release 5 NC_000002.11 - 209212707 Apr 25, 2020 (154)
141 HapMap NC_000002.12 - 208347983 Apr 25, 2020 (154)
142 KOREAN population from KRGDB NC_000002.11 - 209212707 Apr 25, 2020 (154)
143 Korean Genome Project NC_000002.12 - 208347983 Apr 25, 2020 (154)
144 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 209212707 Apr 25, 2020 (154)
145 Northern Sweden NC_000002.11 - 209212707 Jul 13, 2019 (153)
146 The PAGE Study NC_000002.12 - 208347983 Jul 13, 2019 (153)
147 Qatari NC_000002.11 - 209212707 Apr 25, 2020 (154)
148 SGDP_PRJ NC_000002.11 - 209212707 Apr 25, 2020 (154)
149 Siberian NC_000002.11 - 209212707 Apr 25, 2020 (154)
150 8.3KJPN NC_000002.11 - 209212707 Apr 26, 2021 (155)
151 14KJPN NC_000002.12 - 208347983 Oct 13, 2022 (156)
152 TopMed NC_000002.12 - 208347983 Apr 26, 2021 (155)
153 UK 10K study - Twins NC_000002.11 - 209212707 Oct 11, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000002.11 - 209212707 Jul 13, 2019 (153)
155 ALFA NC_000002.12 - 208347983 Apr 26, 2021 (155)
156 ClinVar RCV000288994.5 Oct 13, 2022 (156)
157 ClinVar RCV002057646.3 Oct 13, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs58141524 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78473701, ss83836564 NC_000002.9:209038212:G:A NC_000002.12:208347982:G:A (self)
ss91525065, ss110656917, ss111571310, ss165360597, ss165864731, ss205686974, ss253842540, ss276876796, ss284529947, ss292475837, ss484001428, ss491798981, ss1587350068, ss1712526429, ss3643280460 NC_000002.10:208920951:G:A NC_000002.12:208347982:G:A (self)
12504926, 6912475, 4890831, 6609275, 19984, 5462160, 2352510, 307601, 3031138, 7357535, 111187, 2603840, 3184191, 6487170, 1696748, 14205019, 6912475, 1503008, ss219778368, ss231562265, ss239028534, ss342095532, ss483019442, ss489849297, ss535024196, ss649848158, ss780121977, ss781954516, ss835604962, ss974445474, ss977897358, ss1067444675, ss1069891870, ss1301408916, ss1428892160, ss1579297221, ss1584023523, ss1605667292, ss1648661325, ss1686706666, ss1710994648, ss1798263819, ss1921142261, ss1958499278, ss1969009553, ss2021115704, ss2149180394, ss2625059467, ss2633732534, ss2703828675, ss2733287573, ss2746866726, ss2785662832, ss2991261992, ss3022063154, ss3344713354, ss3628273498, ss3631692790, ss3638315440, ss3642151797, ss3646277711, ss3652513722, ss3659152583, ss3729318975, ss3758013225, ss3784137012, ss3789677509, ss3794550668, ss3823849182, ss3825617738, ss3827474608, ss3837156785, ss3854470190, ss3900180141, ss3984200548, ss3984200549, ss3986020915, ss3986212575, ss4017046466, ss5156235712, ss5314804106, ss5335660239, ss5506774833, ss5623923344, ss5624107615, ss5630835199, ss5800049817, ss5800101319, ss5821509515, ss5848533640, ss5936518883, ss5957085007, ss5980109022, ss5981210595 NC_000002.11:209212706:G:A NC_000002.12:208347982:G:A (self)
RCV000288994.5, RCV002057646.3, 16593729, 89205827, 1998691, 6351610, 202895, 20881767, 346401776, 9910564904, ss2238658500, ss3024316324, ss3647260126, ss3705906599, ss3725866712, ss3770981426, ss3802372092, ss3842578224, ss3949973609, ss4542578897, ss5236977621, ss5237637824, ss5251827242, ss5314404406, ss5451459954, ss5529067794, ss5687044663, ss5803172782, ss5852928398, ss5934468773 NC_000002.12:208347982:G:A NC_000002.12:208347982:G:A (self)
ss14488117, ss19434439, ss21724344 NT_005403.14:59422122:G:A NC_000002.12:208347982:G:A (self)
ss76898469 NT_005403.16:59422123:G:A NC_000002.12:208347982:G:A (self)
ss3251487, ss48406947, ss65738182, ss74869549, ss86345131, ss106157341, ss119430387, ss132905010, ss138619787, ss154625083, ss159703561, ss173278833 NT_005403.17:59422124:G:A NC_000002.12:208347982:G:A (self)
7357535, ss3900180141 NC_000002.11:209212706:G:C NC_000002.12:208347982:G:C (self)
7357535, ss3900180141 NC_000002.11:209212706:G:T NC_000002.12:208347982:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs2304545
PMID Title Author Year Journal
23288988 A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy. Kawasaki S et al. 2012 Molecular vision
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07