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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.

rs117122459

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:88087855 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.020605 (5454/264690, TOPMED)
C=0.023901 (3350/140164, GnomAD)
C=0.03640 (2068/56816, GnomAD_exome) (+ 15 more)
C=0.02482 (828/33360, ALFA)
C=0.03960 (608/15354, ExAC)
C=0.01713 (189/11032, GO-ESP)
C=0.0220 (141/6404, 1000G_30x)
C=0.0228 (114/5008, 1000G)
C=0.0241 (108/4480, Estonian)
C=0.0319 (123/3854, ALSPAC)
C=0.0291 (108/3708, TWINSUK)
C=0.0003 (1/2922, KOREAN)
C=0.025 (25/998, GoNL)
C=0.025 (15/600, NorthernSweden)
C=0.043 (23/534, MGP)
C=0.005 (1/216, Qatari)
T=0.50 (8/16, SGDP_PRJ)
C=0.50 (8/16, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CEP290 : 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 49700 T=0.97592 C=0.02408
European Sub 36802 T=0.97160 C=0.02840
African Sub 7992 T=0.9952 C=0.0048
African Others Sub 308 T=1.000 C=0.000
African American Sub 7684 T=0.9951 C=0.0049
Asian Sub 128 T=1.000 C=0.000
East Asian Sub 100 T=1.00 C=0.00
Other Asian Sub 28 T=1.00 C=0.00
Latin American 1 Sub 168 T=0.982 C=0.018
Latin American 2 Sub 700 T=0.981 C=0.019
South Asian Sub 114 T=0.974 C=0.026
Other Sub 3796 T=0.9750 C=0.0250


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 T=0.979395 C=0.020605
gnomAD - Genomes Global Study-wide 140164 T=0.976099 C=0.023901
gnomAD - Genomes European Sub 75880 T=0.96529 C=0.03471
gnomAD - Genomes African Sub 42028 T=0.99391 C=0.00609
gnomAD - Genomes American Sub 13648 T=0.97274 C=0.02726
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.9868 C=0.0132
gnomAD - Genomes East Asian Sub 3130 T=0.9987 C=0.0013
gnomAD - Genomes Other Sub 2154 T=0.9814 C=0.0186
gnomAD - Exomes Global Study-wide 56816 T=0.96360 C=0.03640
gnomAD - Exomes European Sub 39770 T=0.95982 C=0.04018
gnomAD - Exomes Asian Sub 8590 T=0.9574 C=0.0426
gnomAD - Exomes Ashkenazi Jewish Sub 3464 T=0.9876 C=0.0124
gnomAD - Exomes African Sub 2246 T=0.9978 C=0.0022
gnomAD - Exomes American Sub 1688 T=0.9769 C=0.0231
gnomAD - Exomes Other Sub 1058 T=0.9839 C=0.0161
Allele Frequency Aggregator Total Global 33360 T=0.97518 C=0.02482
Allele Frequency Aggregator European Sub 26716 T=0.97226 C=0.02774
Allele Frequency Aggregator African Sub 3168 T=0.9962 C=0.0038
Allele Frequency Aggregator Other Sub 2366 T=0.9763 C=0.0237
Allele Frequency Aggregator Latin American 2 Sub 700 T=0.981 C=0.019
Allele Frequency Aggregator Latin American 1 Sub 168 T=0.982 C=0.018
Allele Frequency Aggregator Asian Sub 128 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 114 T=0.974 C=0.026
ExAC Global Study-wide 15354 T=0.96040 C=0.03960
ExAC Europe Sub 8946 T=0.9640 C=0.0360
ExAC Asian Sub 3824 T=0.9302 C=0.0698
ExAC African Sub 2060 T=0.9971 C=0.0029
ExAC American Sub 358 T=0.964 C=0.036
ExAC Other Sub 166 T=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 11032 T=0.98287 C=0.01713
GO Exome Sequencing Project European American Sub 7680 T=0.9771 C=0.0229
GO Exome Sequencing Project African American Sub 3352 T=0.9961 C=0.0039
1000Genomes_30x Global Study-wide 6404 T=0.9780 C=0.0220
1000Genomes_30x African Sub 1786 T=0.9989 C=0.0011
1000Genomes_30x Europe Sub 1266 T=0.9676 C=0.0324
1000Genomes_30x South Asian Sub 1202 T=0.9401 C=0.0599
1000Genomes_30x East Asian Sub 1170 T=0.9991 C=0.0009
1000Genomes_30x American Sub 980 T=0.974 C=0.026
1000Genomes Global Study-wide 5008 T=0.9772 C=0.0228
1000Genomes African Sub 1322 T=0.9992 C=0.0008
1000Genomes East Asian Sub 1008 T=0.9990 C=0.0010
1000Genomes Europe Sub 1006 T=0.9662 C=0.0338
1000Genomes South Asian Sub 978 T=0.940 C=0.060
1000Genomes American Sub 694 T=0.973 C=0.027
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9759 C=0.0241
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9681 C=0.0319
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9709 C=0.0291
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9997 C=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.975 C=0.025
Northern Sweden ACPOP Study-wide 600 T=0.975 C=0.025
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.957 C=0.043
Qatari Global Study-wide 216 T=0.995 C=0.005
SGDP_PRJ Global Study-wide 16 T=0.50 C=0.50
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 12 NC_000012.12:g.88087855T>C
GRCh37.p13 chr 12 NC_000012.11:g.88481632T>C
CEP290 RefSeqGene (LRG_694) NG_008417.2:g.59362A>G
Gene: CEP290, centrosomal protein 290 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CEP290 transcript NM_025114.4:c.4119A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa NP_079390.3:p.Lys1373= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X1 XM_011538756.4:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X1 XP_011537058.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X2 XM_011538757.4:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X1 XP_011537059.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X3 XM_011538758.4:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X2 XP_011537060.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X4 XM_011538759.3:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X3 XP_011537061.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X5 XM_011538760.3:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X4 XP_011537062.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X6 XM_017019980.3:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X5 XP_016875469.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X7 XM_011538761.3:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X6 XP_011537063.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X8 XM_017019981.3:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X7 XP_016875470.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X9 XM_017019982.2:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X8 XP_016875471.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X10 XM_047429558.1:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X9 XP_047285514.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X11 XM_047429559.1:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X10 XP_047285515.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X12 XM_011538762.4:c.4212A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X11 XP_011537064.1:p.Lys1404= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X13 XM_047429560.1:c.4212A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X11 XP_047285516.1:p.Lys1404= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X14 XM_047429561.1:c.4212A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X12 XP_047285517.1:p.Lys1404= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X15 XM_011538763.4:c.4119A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X13 XP_011537065.1:p.Lys1373= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X16 XM_047429562.1:c.4119A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X13 XP_047285518.1:p.Lys1373= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X17 XM_017019983.3:c.4098A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X14 XP_016875472.1:p.Lys1366= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X18 XM_047429563.1:c.4119A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X15 XP_047285519.1:p.Lys1373= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X19 XM_011538764.4:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X16 XP_011537066.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X20 XM_011538765.4:c.4980A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X17 XP_011537067.1:p.Lys1660= K (Lys) > K (Lys) Synonymous Variant
CEP290 transcript variant X21 XM_011538766.4:c.3441A>G K [AAA] > K [AAG] Coding Sequence Variant
centrosomal protein of 290 kDa isoform X18 XP_011537068.1:p.Lys1147= K (Lys) > K (Lys) Synonymous 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: C (allele ID: 131790 )
ClinVar Accession Disease Names Clinical Significance
RCV000114197.13 not specified Benign
RCV000262200.4 Bardet-Biedl syndrome 14 Benign
RCV000294467.4 Leber congenital amaurosis 10 Likely-Benign
RCV000320156.4 Meckel syndrome, type 4 Likely-Benign
RCV000333043.4 Senior-Loken syndrome 6 Benign
RCV000386413.4 Joubert syndrome 5 Benign
RCV000477366.9 Joubert syndrome,Meckel-Gruber syndrome,Nephronophthisis Benign
RCV001271572.2 Leber congenital amaurosis Benign
RCV001594836.7 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 T= C
GRCh38.p14 chr 12 NC_000012.12:g.88087855= NC_000012.12:g.88087855T>C
GRCh37.p13 chr 12 NC_000012.11:g.88481632= NC_000012.11:g.88481632T>C
CEP290 RefSeqGene (LRG_694) NG_008417.2:g.59362= NG_008417.2:g.59362A>G
CEP290 transcript NM_025114.4:c.4119= NM_025114.4:c.4119A>G
CEP290 transcript NM_025114.3:c.4119= NM_025114.3:c.4119A>G
CEP290 transcript variant X1 XM_011538756.4:c.4980= XM_011538756.4:c.4980A>G
CEP290 transcript variant X1 XM_011538756.3:c.4980= XM_011538756.3:c.4980A>G
CEP290 transcript variant X1 XM_011538756.2:c.4980= XM_011538756.2:c.4980A>G
CEP290 transcript variant X1 XM_011538756.1:c.4980= XM_011538756.1:c.4980A>G
CEP290 transcript variant X3 XM_011538758.4:c.4980= XM_011538758.4:c.4980A>G
CEP290 transcript variant X3 XM_011538758.3:c.4980= XM_011538758.3:c.4980A>G
CEP290 transcript variant X3 XM_011538758.2:c.4980= XM_011538758.2:c.4980A>G
CEP290 transcript variant X3 XM_011538758.1:c.4980= XM_011538758.1:c.4980A>G
CEP290 transcript variant X2 XM_011538757.4:c.4980= XM_011538757.4:c.4980A>G
CEP290 transcript variant X2 XM_011538757.3:c.4980= XM_011538757.3:c.4980A>G
CEP290 transcript variant X2 XM_011538757.2:c.4980= XM_011538757.2:c.4980A>G
CEP290 transcript variant X2 XM_011538757.1:c.4980= XM_011538757.1:c.4980A>G
CEP290 transcript variant X12 XM_011538762.4:c.4212= XM_011538762.4:c.4212A>G
CEP290 transcript variant X12 XM_011538762.3:c.4212= XM_011538762.3:c.4212A>G
CEP290 transcript variant X12 XM_011538762.2:c.4212= XM_011538762.2:c.4212A>G
CEP290 transcript variant X7 XM_011538762.1:c.4212= XM_011538762.1:c.4212A>G
CEP290 transcript variant X15 XM_011538763.4:c.4119= XM_011538763.4:c.4119A>G
CEP290 transcript variant X13 XM_011538763.3:c.4119= XM_011538763.3:c.4119A>G
CEP290 transcript variant X13 XM_011538763.2:c.4119= XM_011538763.2:c.4119A>G
CEP290 transcript variant X8 XM_011538763.1:c.4119= XM_011538763.1:c.4119A>G
CEP290 transcript variant X19 XM_011538764.4:c.4980= XM_011538764.4:c.4980A>G
CEP290 transcript variant X15 XM_011538764.3:c.4980= XM_011538764.3:c.4980A>G
CEP290 transcript variant X15 XM_011538764.2:c.4980= XM_011538764.2:c.4980A>G
CEP290 transcript variant X9 XM_011538764.1:c.4980= XM_011538764.1:c.4980A>G
CEP290 transcript variant X20 XM_011538765.4:c.4980= XM_011538765.4:c.4980A>G
CEP290 transcript variant X16 XM_011538765.3:c.4980= XM_011538765.3:c.4980A>G
CEP290 transcript variant X16 XM_011538765.2:c.4980= XM_011538765.2:c.4980A>G
CEP290 transcript variant X10 XM_011538765.1:c.4980= XM_011538765.1:c.4980A>G
CEP290 transcript variant X21 XM_011538766.4:c.3441= XM_011538766.4:c.3441A>G
CEP290 transcript variant X17 XM_011538766.3:c.3441= XM_011538766.3:c.3441A>G
CEP290 transcript variant X17 XM_011538766.2:c.3441= XM_011538766.2:c.3441A>G
CEP290 transcript variant X11 XM_011538766.1:c.3441= XM_011538766.1:c.3441A>G
CEP290 transcript variant X4 XM_011538759.3:c.4980= XM_011538759.3:c.4980A>G
CEP290 transcript variant X4 XM_011538759.2:c.4980= XM_011538759.2:c.4980A>G
CEP290 transcript variant X4 XM_011538759.1:c.4980= XM_011538759.1:c.4980A>G
CEP290 transcript variant X5 XM_011538760.3:c.4980= XM_011538760.3:c.4980A>G
CEP290 transcript variant X5 XM_011538760.2:c.4980= XM_011538760.2:c.4980A>G
CEP290 transcript variant X5 XM_011538760.1:c.4980= XM_011538760.1:c.4980A>G
CEP290 transcript variant X6 XM_017019980.3:c.4980= XM_017019980.3:c.4980A>G
CEP290 transcript variant X6 XM_017019980.2:c.4980= XM_017019980.2:c.4980A>G
CEP290 transcript variant X6 XM_017019980.1:c.4980= XM_017019980.1:c.4980A>G
CEP290 transcript variant X7 XM_011538761.3:c.4980= XM_011538761.3:c.4980A>G
CEP290 transcript variant X7 XM_011538761.2:c.4980= XM_011538761.2:c.4980A>G
CEP290 transcript variant X7 XM_011538761.1:c.4980= XM_011538761.1:c.4980A>G
CEP290 transcript variant X8 XM_017019981.3:c.4980= XM_017019981.3:c.4980A>G
CEP290 transcript variant X8 XM_017019981.2:c.4980= XM_017019981.2:c.4980A>G
CEP290 transcript variant X8 XM_017019981.1:c.4980= XM_017019981.1:c.4980A>G
CEP290 transcript variant X17 XM_017019983.3:c.4098= XM_017019983.3:c.4098A>G
CEP290 transcript variant X14 XM_017019983.2:c.4098= XM_017019983.2:c.4098A>G
CEP290 transcript variant X14 XM_017019983.1:c.4098= XM_017019983.1:c.4098A>G
CEP290 transcript variant X9 XM_017019982.2:c.4980= XM_017019982.2:c.4980A>G
CEP290 transcript variant X9 XM_017019982.1:c.4980= XM_017019982.1:c.4980A>G
CEP290 transcript variant X10 XM_047429558.1:c.4980= XM_047429558.1:c.4980A>G
CEP290 transcript variant X14 XM_047429561.1:c.4212= XM_047429561.1:c.4212A>G
CEP290 transcript variant X11 XM_047429559.1:c.4980= XM_047429559.1:c.4980A>G
CEP290 transcript variant X13 XM_047429560.1:c.4212= XM_047429560.1:c.4212A>G
CEP290 transcript variant X16 XM_047429562.1:c.4119= XM_047429562.1:c.4119A>G
CEP290 transcript variant X18 XM_047429563.1:c.4119= XM_047429563.1:c.4119A>G
KIAA0373 transcript NM_014684.1:c.1299= NM_014684.1:c.1299A>G
centrosomal protein of 290 kDa NP_079390.3:p.Lys1373= NP_079390.3:p.Lys1373=
centrosomal protein of 290 kDa isoform X1 XP_011537058.1:p.Lys1660= XP_011537058.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X2 XP_011537060.1:p.Lys1660= XP_011537060.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X1 XP_011537059.1:p.Lys1660= XP_011537059.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X11 XP_011537064.1:p.Lys1404= XP_011537064.1:p.Lys1404=
centrosomal protein of 290 kDa isoform X13 XP_011537065.1:p.Lys1373= XP_011537065.1:p.Lys1373=
centrosomal protein of 290 kDa isoform X16 XP_011537066.1:p.Lys1660= XP_011537066.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X17 XP_011537067.1:p.Lys1660= XP_011537067.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X18 XP_011537068.1:p.Lys1147= XP_011537068.1:p.Lys1147=
centrosomal protein of 290 kDa isoform X3 XP_011537061.1:p.Lys1660= XP_011537061.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X4 XP_011537062.1:p.Lys1660= XP_011537062.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X5 XP_016875469.1:p.Lys1660= XP_016875469.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X6 XP_011537063.1:p.Lys1660= XP_011537063.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X7 XP_016875470.1:p.Lys1660= XP_016875470.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X14 XP_016875472.1:p.Lys1366= XP_016875472.1:p.Lys1366=
centrosomal protein of 290 kDa isoform X8 XP_016875471.1:p.Lys1660= XP_016875471.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X9 XP_047285514.1:p.Lys1660= XP_047285514.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X12 XP_047285517.1:p.Lys1404= XP_047285517.1:p.Lys1404=
centrosomal protein of 290 kDa isoform X10 XP_047285515.1:p.Lys1660= XP_047285515.1:p.Lys1660=
centrosomal protein of 290 kDa isoform X11 XP_047285516.1:p.Lys1404= XP_047285516.1:p.Lys1404=
centrosomal protein of 290 kDa isoform X13 XP_047285518.1:p.Lys1373= XP_047285518.1:p.Lys1373=
centrosomal protein of 290 kDa isoform X15 XP_047285519.1:p.Lys1373= XP_047285519.1:p.Lys1373=
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#.

56 SubSNP, 17 Frequency, 9 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss236029031 Jul 15, 2010 (132)
2 ILLUMINA ss483121716 May 04, 2012 (137)
3 ILLUMINA ss483908715 May 04, 2012 (137)
4 ILLUMINA ss536102931 Sep 08, 2015 (146)
5 SSMP ss658885387 Apr 25, 2013 (138)
6 NHLBI-ESP ss713109381 Apr 25, 2013 (138)
7 ILLUMINA ss778682389 Sep 08, 2015 (146)
8 ILLUMINA ss782397983 Sep 08, 2015 (146)
9 ILLUMINA ss834140978 Sep 08, 2015 (146)
10 EVA-GONL ss989795436 Aug 21, 2014 (142)
11 JMKIDD_LAB ss1078653130 Aug 21, 2014 (142)
12 1000GENOMES ss1346018524 Aug 21, 2014 (142)
13 CLINVAR ss1457612268 Nov 23, 2014 (142)
14 EVA_UK10K_ALSPAC ss1629107911 Apr 01, 2015 (144)
15 EVA_DECODE ss1641894222 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1672101944 Apr 01, 2015 (144)
17 EVA_EXAC ss1691038643 Apr 01, 2015 (144)
18 EVA_MGP ss1711338052 Apr 01, 2015 (144)
19 WEILL_CORNELL_DGM ss1933155149 Feb 12, 2016 (147)
20 JJLAB ss2027330100 Sep 14, 2016 (149)
21 CSHL ss2136801238 Nov 08, 2017 (151)
22 HUMAN_LONGEVITY ss2191883968 Dec 20, 2016 (150)
23 ILLUMINA ss2632988260 Nov 08, 2017 (151)
24 GNOMAD ss2740022485 Nov 08, 2017 (151)
25 GNOMAD ss2748927663 Nov 08, 2017 (151)
26 GNOMAD ss2913407378 Nov 08, 2017 (151)
27 SWEGEN ss3010097535 Nov 08, 2017 (151)
28 CSHL ss3350179487 Nov 08, 2017 (151)
29 ILLUMINA ss3626931685 Oct 12, 2018 (152)
30 ILLUMINA ss3630995778 Oct 12, 2018 (152)
31 OMUKHERJEE_ADBS ss3646445272 Oct 12, 2018 (152)
32 EGCUT_WGS ss3677382455 Jul 13, 2019 (153)
33 EVA_DECODE ss3694156290 Jul 13, 2019 (153)
34 ACPOP ss3739243711 Jul 13, 2019 (153)
35 EVA ss3750776441 Jul 13, 2019 (153)
36 KHV_HUMAN_GENOMES ss3816111974 Jul 13, 2019 (153)
37 EVA ss3824755964 Apr 27, 2020 (154)
38 EVA ss3825826038 Apr 27, 2020 (154)
39 SGDP_PRJ ss3878794294 Apr 27, 2020 (154)
40 KRGDB ss3927490737 Apr 27, 2020 (154)
41 FSA-LAB ss3984033823 Apr 26, 2021 (155)
42 EVA ss3986579827 Apr 26, 2021 (155)
43 TOPMED ss4927298135 Apr 26, 2021 (155)
44 EVA ss5236907933 Apr 26, 2021 (155)
45 EVA ss5237660553 Oct 16, 2022 (156)
46 1000G_HIGH_COVERAGE ss5291690601 Oct 16, 2022 (156)
47 TRAN_CS_UWATERLOO ss5314436249 Oct 16, 2022 (156)
48 HUGCELL_USP ss5486345347 Oct 16, 2022 (156)
49 1000G_HIGH_COVERAGE ss5589649520 Oct 16, 2022 (156)
50 SANFORD_IMAGENETICS ss5653654600 Oct 16, 2022 (156)
51 EVA ss5799448420 Oct 16, 2022 (156)
52 EVA ss5838302606 Oct 16, 2022 (156)
53 EVA ss5848358727 Oct 16, 2022 (156)
54 EVA ss5905391661 Oct 16, 2022 (156)
55 EVA ss5945037157 Oct 16, 2022 (156)
56 EVA ss5981277374 Oct 16, 2022 (156)
57 1000Genomes NC_000012.11 - 88481632 Oct 12, 2018 (152)
58 1000Genomes_30x NC_000012.12 - 88087855 Oct 16, 2022 (156)
59 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 88481632 Oct 12, 2018 (152)
60 Genetic variation in the Estonian population NC_000012.11 - 88481632 Oct 12, 2018 (152)
61 ExAC NC_000012.11 - 88481632 Oct 12, 2018 (152)
62 gnomAD - Genomes NC_000012.12 - 88087855 Apr 26, 2021 (155)
63 gnomAD - Exomes NC_000012.11 - 88481632 Jul 13, 2019 (153)
64 GO Exome Sequencing Project NC_000012.11 - 88481632 Oct 12, 2018 (152)
65 Genome of the Netherlands Release 5 NC_000012.11 - 88481632 Apr 27, 2020 (154)
66 KOREAN population from KRGDB NC_000012.11 - 88481632 Apr 27, 2020 (154)
67 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 88481632 Apr 27, 2020 (154)
68 Northern Sweden NC_000012.11 - 88481632 Jul 13, 2019 (153)
69 Qatari NC_000012.11 - 88481632 Apr 27, 2020 (154)
70 SGDP_PRJ NC_000012.11 - 88481632 Apr 27, 2020 (154)
71 TopMed NC_000012.12 - 88087855 Apr 26, 2021 (155)
72 UK 10K study - Twins NC_000012.11 - 88481632 Oct 12, 2018 (152)
73 ALFA NC_000012.12 - 88087855 Apr 26, 2021 (155)
74 ClinVar RCV000114197.13 Oct 16, 2022 (156)
75 ClinVar RCV000262200.4 Oct 16, 2022 (156)
76 ClinVar RCV000294467.4 Oct 16, 2022 (156)
77 ClinVar RCV000320156.4 Oct 16, 2022 (156)
78 ClinVar RCV000333043.4 Oct 16, 2022 (156)
79 ClinVar RCV000386413.4 Oct 16, 2022 (156)
80 ClinVar RCV000477366.9 Oct 16, 2022 (156)
81 ClinVar RCV001271572.2 Oct 16, 2022 (156)
82 ClinVar RCV001594836.7 Oct 16, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss483121716, ss1641894222, ss2136801238 NC_000012.10:87005762:T:C NC_000012.12:88087854:T:C (self)
58805813, 32644223, 23120703, 1346515, 9257869, 1213417, 14567807, 34668131, 453812, 12528576, 15197079, 30811274, 32644223, ss236029031, ss483908715, ss536102931, ss658885387, ss713109381, ss778682389, ss782397983, ss834140978, ss989795436, ss1078653130, ss1346018524, ss1629107911, ss1672101944, ss1691038643, ss1711338052, ss1933155149, ss2027330100, ss2632988260, ss2740022485, ss2748927663, ss2913407378, ss3010097535, ss3350179487, ss3626931685, ss3630995778, ss3646445272, ss3677382455, ss3739243711, ss3750776441, ss3824755964, ss3825826038, ss3878794294, ss3927490737, ss3984033823, ss3986579827, ss5653654600, ss5799448420, ss5838302606, ss5848358727, ss5945037157, ss5981277374 NC_000012.11:88481631:T:C NC_000012.12:88087854:T:C (self)
RCV000114197.13, RCV000262200.4, RCV000294467.4, RCV000320156.4, RCV000333043.4, RCV000386413.4, RCV000477366.9, RCV001271572.2, RCV001594836.7, 77175455, 414786850, 142843792, 4063856380, ss1457612268, ss2191883968, ss3694156290, ss3816111974, ss4927298135, ss5236907933, ss5237660553, ss5291690601, ss5314436249, ss5486345347, ss5589649520, ss5905391661 NC_000012.12:88087854:T:C NC_000012.12:88087854:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs117122459
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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