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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.

rs765237852

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:6221696 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000019 (5/264690, TOPMED)
T=0.000014 (2/140202, GnomAD)
T=0.00007 (3/44326, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PFKFB3 : Missense Variant
Publications
0 citations
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 44326 A=0.99993 T=0.00007
European Sub 32582 A=0.99994 T=0.00006
African Sub 3512 A=1.0000 T=0.0000
African Others Sub 122 A=1.000 T=0.000
African American Sub 3390 A=1.0000 T=0.0000
Asian Sub 168 A=1.000 T=0.000
East Asian Sub 112 A=1.000 T=0.000
Other Asian Sub 56 A=1.00 T=0.00
Latin American 1 Sub 488 A=1.000 T=0.000
Latin American 2 Sub 628 A=1.000 T=0.000
South Asian Sub 98 A=1.00 T=0.00
Other Sub 6850 A=0.9999 T=0.0001


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 A=0.999981 T=0.000019
gnomAD - Genomes Global Study-wide 140202 A=0.999986 T=0.000014
gnomAD - Genomes European Sub 75916 A=0.99999 T=0.00001
gnomAD - Genomes African Sub 42020 A=0.99998 T=0.00002
gnomAD - Genomes American Sub 13662 A=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 A=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 A=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 44326 A=0.99993 T=0.00007
Allele Frequency Aggregator European Sub 32582 A=0.99994 T=0.00006
Allele Frequency Aggregator Other Sub 6850 A=0.9999 T=0.0001
Allele Frequency Aggregator African Sub 3512 A=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 A=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 488 A=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 168 A=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 T=0.00
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 10 NC_000010.11:g.6221696A>G
GRCh38.p14 chr 10 NC_000010.11:g.6221696A>T
GRCh37.p13 chr 10 NC_000010.10:g.6263659A>G
GRCh37.p13 chr 10 NC_000010.10:g.6263659A>T
Gene: PFKFB3, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PFKFB3 transcript variant 1 NM_004566.4:c.1034A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 1 NP_004557.1:p.Tyr345Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant 1 NM_004566.4:c.1034A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 1 NP_004557.1:p.Tyr345Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant 4 NM_001314063.2:c.1034A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 4 NP_001300992.1:p.Tyr345Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant 4 NM_001314063.2:c.1034A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 4 NP_001300992.1:p.Tyr345Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant 2 NM_001145443.3:c.974A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 2 NP_001138915.1:p.Tyr325Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant 2 NM_001145443.3:c.974A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 2 NP_001138915.1:p.Tyr325Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant 8 NM_001363545.2:c.1034A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 7 NP_001350474.1:p.Tyr345Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant 8 NM_001363545.2:c.1034A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 7 NP_001350474.1:p.Tyr345Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant 6 NM_001323017.2:c.485A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 6 NP_001309946.1:p.Tyr162Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant 6 NM_001323017.2:c.485A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 6 NP_001309946.1:p.Tyr162Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant 5 NM_001323016.2:c.974A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5 NP_001309945.1:p.Tyr325Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant 5 NM_001323016.2:c.974A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5 NP_001309945.1:p.Tyr325Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant 3 NM_001282630.3:c.1076A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 3 NP_001269559.1:p.Tyr359Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant 3 NM_001282630.3:c.1076A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 3 NP_001269559.1:p.Tyr359Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant 7 NR_136554.2:n. N/A Intron Variant
PFKFB3 transcript variant X10 XM_011519493.2:c.978+169A…

XM_011519493.2:c.978+169A>G

 		N/A Intron Variant
PFKFB3 transcript variant X3 XM_047425342.1:c.978+169A…

XM_047425342.1:c.978+169A>G

 		N/A Intron Variant
PFKFB3 transcript variant X5 XM_047425344.1:c.978+169A…

XM_047425344.1:c.978+169A>G

 		N/A Intron Variant
PFKFB3 transcript variant X6 XM_047425345.1:c.921+169A…

XM_047425345.1:c.921+169A>G

 		N/A Intron Variant
PFKFB3 transcript variant X7 XM_047425346.1:c.918+169A…

XM_047425346.1:c.918+169A>G

 		N/A Intron Variant
PFKFB3 transcript variant X1 XM_017016329.2:c.977A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1 XP_016871818.1:p.Tyr326Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant X1 XM_017016329.2:c.977A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1 XP_016871818.1:p.Tyr326Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant X8 XM_005252464.2:c.1034A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X8 XP_005252521.1:p.Tyr345Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant X8 XM_005252464.2:c.1034A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X8 XP_005252521.1:p.Tyr345Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant X2 XM_047425341.1:c.974A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2 XP_047281297.1:p.Tyr325Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant X2 XM_047425341.1:c.974A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2 XP_047281297.1:p.Tyr325Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant X4 XM_047425343.1:c.917A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4 XP_047281299.1:p.Tyr306Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant X4 XM_047425343.1:c.917A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4 XP_047281299.1:p.Tyr306Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant X9 XM_047425347.1:c.974A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X9 XP_047281303.1:p.Tyr325Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant X9 XM_047425347.1:c.974A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X9 XP_047281303.1:p.Tyr325Phe Y (Tyr) > F (Phe) Missense Variant
PFKFB3 transcript variant X11 XM_047425349.1:c.485A>G Y [TAT] > C [TGT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X11 XP_047281305.1:p.Tyr162Cys Y (Tyr) > C (Cys) Missense Variant
PFKFB3 transcript variant X11 XM_047425349.1:c.485A>T Y [TAT] > F [TTT] Coding Sequence Variant
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X11 XP_047281305.1:p.Tyr162Phe Y (Tyr) > F (Phe) Missense 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.

Not Reported in ClinVar
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 A= G T
GRCh38.p14 chr 10 NC_000010.11:g.6221696= NC_000010.11:g.6221696A>G NC_000010.11:g.6221696A>T
GRCh37.p13 chr 10 NC_000010.10:g.6263659= NC_000010.10:g.6263659A>G NC_000010.10:g.6263659A>T
PFKFB3 transcript variant 1 NM_004566.4:c.1034= NM_004566.4:c.1034A>G NM_004566.4:c.1034A>T
PFKFB3 transcript variant 1 NM_004566.3:c.1034= NM_004566.3:c.1034A>G NM_004566.3:c.1034A>T
PFKFB3 transcript variant 3 NM_001282630.3:c.1076= NM_001282630.3:c.1076A>G NM_001282630.3:c.1076A>T
PFKFB3 transcript variant 3 NM_001282630.2:c.1076= NM_001282630.2:c.1076A>G NM_001282630.2:c.1076A>T
PFKFB3 transcript variant 3 NM_001282630.1:c.1076= NM_001282630.1:c.1076A>G NM_001282630.1:c.1076A>T
PFKFB3 transcript variant 2 NM_001145443.3:c.974= NM_001145443.3:c.974A>G NM_001145443.3:c.974A>T
PFKFB3 transcript variant 2 NM_001145443.2:c.974= NM_001145443.2:c.974A>G NM_001145443.2:c.974A>T
PFKFB3 transcript variant 2 NM_001145443.1:c.974= NM_001145443.1:c.974A>G NM_001145443.1:c.974A>T
PFKFB3 transcript variant 6 NM_001323017.2:c.485= NM_001323017.2:c.485A>G NM_001323017.2:c.485A>T
PFKFB3 transcript variant 6 NM_001323017.1:c.485= NM_001323017.1:c.485A>G NM_001323017.1:c.485A>T
PFKFB3 transcript variant 4 NM_001314063.2:c.1034= NM_001314063.2:c.1034A>G NM_001314063.2:c.1034A>T
PFKFB3 transcript variant 4 NM_001314063.1:c.1034= NM_001314063.1:c.1034A>G NM_001314063.1:c.1034A>T
PFKFB3 transcript variant X1 XM_017016329.2:c.977= XM_017016329.2:c.977A>G XM_017016329.2:c.977A>T
PFKFB3 transcript variant X5 XM_017016329.1:c.977= XM_017016329.1:c.977A>G XM_017016329.1:c.977A>T
PFKFB3 transcript variant X8 XM_005252464.2:c.1034= XM_005252464.2:c.1034A>G XM_005252464.2:c.1034A>T
PFKFB3 transcript variant X6 XM_005252464.1:c.1034= XM_005252464.1:c.1034A>G XM_005252464.1:c.1034A>T
PFKFB3 transcript variant 5 NM_001323016.2:c.974= NM_001323016.2:c.974A>G NM_001323016.2:c.974A>T
PFKFB3 transcript variant 5 NM_001323016.1:c.974= NM_001323016.1:c.974A>G NM_001323016.1:c.974A>T
PFKFB3 transcript variant 8 NM_001363545.2:c.1034= NM_001363545.2:c.1034A>G NM_001363545.2:c.1034A>T
PFKFB3 transcript variant 8 NM_001363545.1:c.1034= NM_001363545.1:c.1034A>G NM_001363545.1:c.1034A>T
PFKFB3 transcript variant X4 XM_047425343.1:c.917= XM_047425343.1:c.917A>G XM_047425343.1:c.917A>T
PFKFB3 transcript variant X9 XM_047425347.1:c.974= XM_047425347.1:c.974A>G XM_047425347.1:c.974A>T
PFKFB3 transcript variant X11 XM_047425349.1:c.485= XM_047425349.1:c.485A>G XM_047425349.1:c.485A>T
PFKFB3 transcript variant X2 XM_047425341.1:c.974= XM_047425341.1:c.974A>G XM_047425341.1:c.974A>T
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 1 NP_004557.1:p.Tyr345= NP_004557.1:p.Tyr345Cys NP_004557.1:p.Tyr345Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 3 NP_001269559.1:p.Tyr359= NP_001269559.1:p.Tyr359Cys NP_001269559.1:p.Tyr359Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 2 NP_001138915.1:p.Tyr325= NP_001138915.1:p.Tyr325Cys NP_001138915.1:p.Tyr325Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 6 NP_001309946.1:p.Tyr162= NP_001309946.1:p.Tyr162Cys NP_001309946.1:p.Tyr162Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 4 NP_001300992.1:p.Tyr345= NP_001300992.1:p.Tyr345Cys NP_001300992.1:p.Tyr345Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1 XP_016871818.1:p.Tyr326= XP_016871818.1:p.Tyr326Cys XP_016871818.1:p.Tyr326Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X8 XP_005252521.1:p.Tyr345= XP_005252521.1:p.Tyr345Cys XP_005252521.1:p.Tyr345Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5 NP_001309945.1:p.Tyr325= NP_001309945.1:p.Tyr325Cys NP_001309945.1:p.Tyr325Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 7 NP_001350474.1:p.Tyr345= NP_001350474.1:p.Tyr345Cys NP_001350474.1:p.Tyr345Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4 XP_047281299.1:p.Tyr306= XP_047281299.1:p.Tyr306Cys XP_047281299.1:p.Tyr306Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X9 XP_047281303.1:p.Tyr325= XP_047281303.1:p.Tyr325Cys XP_047281303.1:p.Tyr325Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X11 XP_047281305.1:p.Tyr162= XP_047281305.1:p.Tyr162Cys XP_047281305.1:p.Tyr162Phe
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2 XP_047281297.1:p.Tyr325= XP_047281297.1:p.Tyr325Cys XP_047281297.1:p.Tyr325Phe
PFKFB3 transcript variant X10 XM_011519493.2:c.978+169= XM_011519493.2:c.978+169A>G XM_011519493.2:c.978+169A>T
PFKFB3 transcript variant X3 XM_047425342.1:c.978+169= XM_047425342.1:c.978+169A>G XM_047425342.1:c.978+169A>T
PFKFB3 transcript variant X5 XM_047425344.1:c.978+169= XM_047425344.1:c.978+169A>G XM_047425344.1:c.978+169A>T
PFKFB3 transcript variant X6 XM_047425345.1:c.921+169= XM_047425345.1:c.921+169A>G XM_047425345.1:c.921+169A>T
PFKFB3 transcript variant X7 XM_047425346.1:c.918+169= XM_047425346.1:c.918+169A>G XM_047425346.1:c.918+169A>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#.

7 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1689806861 Apr 01, 2015 (144)
2 EVA_EXAC ss1689806862 Apr 01, 2015 (144)
3 HUMAN_LONGEVITY ss2172355015 Dec 20, 2016 (150)
4 GNOMAD ss2738098126 Nov 08, 2017 (151)
5 EVA ss3825770759 Apr 26, 2020 (154)
6 GNOMAD ss4212312187 Apr 26, 2021 (155)
7 TOPMED ss4841230123 Apr 26, 2021 (155)
8 ExAC

Submission ignored due to conflicting rows:
Row 20198 (NC_000010.10:6263658:A:A 87219/87220, NC_000010.10:6263658:A:G 1/87220)
Row 20199 (NC_000010.10:6263658:A:A 87212/87220, NC_000010.10:6263658:A:T 8/87220)

- Oct 12, 2018 (152)
9 ExAC

Submission ignored due to conflicting rows:
Row 20198 (NC_000010.10:6263658:A:A 87219/87220, NC_000010.10:6263658:A:G 1/87220)
Row 20199 (NC_000010.10:6263658:A:A 87212/87220, NC_000010.10:6263658:A:T 8/87220)

- Oct 12, 2018 (152)
10 gnomAD - Genomes NC_000010.11 - 6221696 Apr 26, 2021 (155)
11 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7291509 (NC_000010.10:6263658:A:A 241524/241526, NC_000010.10:6263658:A:G 2/241526)
Row 7291510 (NC_000010.10:6263658:A:A 241511/241526, NC_000010.10:6263658:A:T 15/241526)

- Jul 13, 2019 (153)
12 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7291509 (NC_000010.10:6263658:A:A 241524/241526, NC_000010.10:6263658:A:G 2/241526)
Row 7291510 (NC_000010.10:6263658:A:A 241511/241526, NC_000010.10:6263658:A:T 15/241526)

- Jul 13, 2019 (153)
13 TopMed NC_000010.11 - 6221696 Apr 26, 2021 (155)
14 ALFA NC_000010.11 - 6221696 Apr 26, 2021 (155)
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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
ss1689806862, ss2738098126 NC_000010.10:6263658:A:G NC_000010.11:6221695:A:G (self)
ss1689806861, ss2738098126, ss3825770759 NC_000010.10:6263658:A:T NC_000010.11:6221695:A:T (self)
342404738, 56775778, 2904316303, ss2172355015, ss4212312187, ss4841230123 NC_000010.11:6221695:A:T NC_000010.11:6221695:A: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.

No publications for rs765237852

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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
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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