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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.

rs767413285

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:121593858 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000108 (27/250826, GnomAD_exome)
T=0.000140 (16/114550, ExAC) (+ 1 more)
T=0.00005 (1/19668, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FGFR2 : 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 19668 G=0.99995 T=0.00005
European Sub 13024 G=1.00000 T=0.00000
African Sub 2888 G=1.0000 T=0.0000
African Others Sub 92 G=1.00 T=0.00
African American Sub 2796 G=1.0000 T=0.0000
Asian Sub 164 G=1.000 T=0.000
East Asian Sub 110 G=1.000 T=0.000
Other Asian Sub 54 G=1.00 T=0.00
Latin American 1 Sub 146 G=1.000 T=0.000
Latin American 2 Sub 610 G=1.000 T=0.000
South Asian Sub 94 G=1.00 T=0.00
Other Sub 2742 G=0.9996 T=0.0004


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=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 250826 G=0.999892 T=0.000108
gnomAD - Exomes European Sub 135026 G=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 48968 G=0.99945 T=0.00055
gnomAD - Exomes American Sub 34508 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 16140 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10060 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6124 G=1.0000 T=0.0000
ExAC Global Study-wide 114550 G=0.999860 T=0.000140
ExAC Europe Sub 69242 G=1.00000 T=0.00000
ExAC Asian Sub 23966 G=0.99933 T=0.00067
ExAC American Sub 10782 G=1.00000 T=0.00000
ExAC African Sub 9712 G=1.0000 T=0.0000
ExAC Other Sub 848 G=1.000 T=0.000
Allele Frequency Aggregator Total Global 19668 G=0.99995 T=0.00005
Allele Frequency Aggregator European Sub 13024 G=1.00000 T=0.00000
Allele Frequency Aggregator African Sub 2888 G=1.0000 T=0.0000
Allele Frequency Aggregator Other Sub 2742 G=0.9996 T=0.0004
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 164 G=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 G=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.121593858G>A
GRCh38.p14 chr 10 NC_000010.11:g.121593858G>T
GRCh37.p13 chr 10 NC_000010.10:g.123353372G>A
GRCh37.p13 chr 10 NC_000010.10:g.123353372G>T
FGFR2 RefSeqGene (LRG_994) NG_012449.2:g.9601C>T
FGFR2 RefSeqGene (LRG_994) NG_012449.2:g.9601C>A
Gene: FGFR2, fibroblast growth factor receptor 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGFR2 transcript variant 2 NM_022970.3:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 3 NM_001144913.1:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 4 NM_001144914.1:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 11 NM_023029.2:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 9 NM_001144919.2:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 16 NM_001320658.2:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 7 NM_001144917.2:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 8 NM_001144918.2:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 1 NM_000141.5:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 6 NM_001144916.2:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 5 NM_001144915.2:c.-41= N/A 5 Prime UTR Variant
FGFR2 transcript variant 15 NM_001320654.2:c. N/A Genic Upstream Transcript Variant
FGFR2 transcript variant 14 NR_073009.2:n.593C>T N/A Non Coding Transcript Variant
FGFR2 transcript variant 14 NR_073009.2:n.593C>A N/A Non Coding Transcript Variant
FGFR2 transcript variant X1 XM_006717708.4:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X1 XP_006717771.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X1 XM_006717708.4:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X1 XP_006717771.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X2 XM_006717710.5:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X2 XP_006717773.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X2 XM_006717710.5:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X2 XP_006717773.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X3 XM_017015920.3:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X3 XP_016871409.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X3 XM_017015920.3:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X3 XP_016871409.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X4 XM_017015921.3:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X4 XP_016871410.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X4 XM_017015921.3:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X4 XP_016871410.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X5 XM_024447890.2:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X5 XP_024303658.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X5 XM_024447890.2:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X5 XP_024303658.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X6 XM_024447887.2:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X6 XP_024303655.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X6 XM_024447887.2:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X6 XP_024303655.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X7 XM_024447888.2:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X7 XP_024303656.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X7 XM_024447888.2:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X7 XP_024303656.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X8 XM_024447889.2:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X8 XP_024303657.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X8 XM_024447889.2:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X8 XP_024303657.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X9 XM_024447891.2:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X9 XP_024303659.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X9 XM_024447891.2:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X9 XP_024303659.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X10 XM_017015924.3:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X10 XP_016871413.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X10 XM_017015924.3:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X10 XP_016871413.1:p.Thr6Lys T (Thr) > K (Lys) Missense Variant
FGFR2 transcript variant X11 XM_017015925.3:c.17C>T T [ACA] > I [ATA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X11 XP_016871414.1:p.Thr6Ile T (Thr) > I (Ile) Missense Variant
FGFR2 transcript variant X11 XM_017015925.3:c.17C>A T [ACA] > K [AAA] Coding Sequence Variant
fibroblast growth factor receptor 2 isoform X11 XP_016871414.1:p.Thr6Lys T (Thr) > K (Lys) 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 G= A T
GRCh38.p14 chr 10 NC_000010.11:g.121593858= NC_000010.11:g.121593858G>A NC_000010.11:g.121593858G>T
GRCh37.p13 chr 10 NC_000010.10:g.123353372= NC_000010.10:g.123353372G>A NC_000010.10:g.123353372G>T
FGFR2 RefSeqGene (LRG_994) NG_012449.2:g.9601= NG_012449.2:g.9601C>T NG_012449.2:g.9601C>A
FGFR2 transcript variant 1 NM_000141.5:c.-41= NM_000141.5:c.-41C>T NM_000141.5:c.-41C>A
FGFR2 transcript variant 1 NM_000141.4:c.-41= NM_000141.4:c.-41C>T NM_000141.4:c.-41C>A
FGFR2 transcript variant 2 NM_022970.3:c.-41= NM_022970.3:c.-41C>T NM_022970.3:c.-41C>A
FGFR2 transcript variant 16 NM_001320658.2:c.-41= NM_001320658.2:c.-41C>T NM_001320658.2:c.-41C>A
FGFR2 transcript variant 16 NM_001320658.1:c.-41= NM_001320658.1:c.-41C>T NM_001320658.1:c.-41C>A
FGFR2 transcript variant 14 NR_073009.2:n.593= NR_073009.2:n.593C>T NR_073009.2:n.593C>A
FGFR2 transcript variant 14 NR_073009.1:n.607= NR_073009.1:n.607C>T NR_073009.1:n.607C>A
FGFR2 transcript variant 7 NM_001144917.2:c.-41= NM_001144917.2:c.-41C>T NM_001144917.2:c.-41C>A
FGFR2 transcript variant 7 NM_001144917.1:c.-41= NM_001144917.1:c.-41C>T NM_001144917.1:c.-41C>A
FGFR2 transcript variant 8 NM_001144918.2:c.-41= NM_001144918.2:c.-41C>T NM_001144918.2:c.-41C>A
FGFR2 transcript variant 8 NM_001144918.1:c.-41= NM_001144918.1:c.-41C>T NM_001144918.1:c.-41C>A
FGFR2 transcript variant 6 NM_001144916.2:c.-41= NM_001144916.2:c.-41C>T NM_001144916.2:c.-41C>A
FGFR2 transcript variant 6 NM_001144916.1:c.-41= NM_001144916.1:c.-41C>T NM_001144916.1:c.-41C>A
FGFR2 transcript variant 11 NM_023029.2:c.-41= NM_023029.2:c.-41C>T NM_023029.2:c.-41C>A
FGFR2 transcript variant 5 NM_001144915.2:c.-41= NM_001144915.2:c.-41C>T NM_001144915.2:c.-41C>A
FGFR2 transcript variant 5 NM_001144915.1:c.-41= NM_001144915.1:c.-41C>T NM_001144915.1:c.-41C>A
FGFR2 transcript variant 9 NM_001144919.2:c.-41= NM_001144919.2:c.-41C>T NM_001144919.2:c.-41C>A
FGFR2 transcript variant 9 NM_001144919.1:c.-41= NM_001144919.1:c.-41C>T NM_001144919.1:c.-41C>A
FGFR2 transcript variant 4 NM_001144914.1:c.-41= NM_001144914.1:c.-41C>T NM_001144914.1:c.-41C>A
FGFR2 transcript variant 3 NM_001144913.1:c.-41= NM_001144913.1:c.-41C>T NM_001144913.1:c.-41C>A
FGFR2 transcript variant X2 XM_006717710.5:c.17= XM_006717710.5:c.17C>T XM_006717710.5:c.17C>A
FGFR2 transcript variant X2 XM_006717710.4:c.17= XM_006717710.4:c.17C>T XM_006717710.4:c.17C>A
FGFR2 transcript variant X2 XM_006717710.3:c.17= XM_006717710.3:c.17C>T XM_006717710.3:c.17C>A
FGFR2 transcript variant X3 XM_006717710.2:c.17= XM_006717710.2:c.17C>T XM_006717710.2:c.17C>A
FGFR2 transcript variant X3 XM_006717710.1:c.17= XM_006717710.1:c.17C>T XM_006717710.1:c.17C>A
FGFR2 transcript variant X1 XM_006717708.4:c.17= XM_006717708.4:c.17C>T XM_006717708.4:c.17C>A
FGFR2 transcript variant X1 XM_006717708.3:c.17= XM_006717708.3:c.17C>T XM_006717708.3:c.17C>A
FGFR2 transcript variant X1 XM_006717708.2:c.17= XM_006717708.2:c.17C>T XM_006717708.2:c.17C>A
FGFR2 transcript variant X1 XM_006717708.1:c.17= XM_006717708.1:c.17C>T XM_006717708.1:c.17C>A
FGFR2 transcript variant X3 XM_017015920.3:c.17= XM_017015920.3:c.17C>T XM_017015920.3:c.17C>A
FGFR2 transcript variant X3 XM_017015920.2:c.17= XM_017015920.2:c.17C>T XM_017015920.2:c.17C>A
FGFR2 transcript variant X3 XM_017015920.1:c.17= XM_017015920.1:c.17C>T XM_017015920.1:c.17C>A
FGFR2 transcript variant X4 XM_017015921.3:c.17= XM_017015921.3:c.17C>T XM_017015921.3:c.17C>A
FGFR2 transcript variant X4 XM_017015921.2:c.17= XM_017015921.2:c.17C>T XM_017015921.2:c.17C>A
FGFR2 transcript variant X4 XM_017015921.1:c.17= XM_017015921.1:c.17C>T XM_017015921.1:c.17C>A
FGFR2 transcript variant X11 XM_017015925.3:c.17= XM_017015925.3:c.17C>T XM_017015925.3:c.17C>A
FGFR2 transcript variant X11 XM_017015925.2:c.17= XM_017015925.2:c.17C>T XM_017015925.2:c.17C>A
FGFR2 transcript variant X10 XM_017015925.1:c.17= XM_017015925.1:c.17C>T XM_017015925.1:c.17C>A
FGFR2 transcript variant X10 XM_017015924.3:c.17= XM_017015924.3:c.17C>T XM_017015924.3:c.17C>A
FGFR2 transcript variant X10 XM_017015924.2:c.17= XM_017015924.2:c.17C>T XM_017015924.2:c.17C>A
FGFR2 transcript variant X9 XM_017015924.1:c.17= XM_017015924.1:c.17C>T XM_017015924.1:c.17C>A
FGFR2 transcript variant X5 XM_024447890.2:c.17= XM_024447890.2:c.17C>T XM_024447890.2:c.17C>A
FGFR2 transcript variant X8 XM_024447890.1:c.17= XM_024447890.1:c.17C>T XM_024447890.1:c.17C>A
FGFR2 transcript variant X6 XM_024447887.2:c.17= XM_024447887.2:c.17C>T XM_024447887.2:c.17C>A
FGFR2 transcript variant X5 XM_024447887.1:c.17= XM_024447887.1:c.17C>T XM_024447887.1:c.17C>A
FGFR2 transcript variant X7 XM_024447888.2:c.17= XM_024447888.2:c.17C>T XM_024447888.2:c.17C>A
FGFR2 transcript variant X6 XM_024447888.1:c.17= XM_024447888.1:c.17C>T XM_024447888.1:c.17C>A
FGFR2 transcript variant X8 XM_024447889.2:c.17= XM_024447889.2:c.17C>T XM_024447889.2:c.17C>A
FGFR2 transcript variant X7 XM_024447889.1:c.17= XM_024447889.1:c.17C>T XM_024447889.1:c.17C>A
FGFR2 transcript variant 8 NM_022975.2:c.-41= NM_022975.2:c.-41C>T NM_022975.2:c.-41C>A
FGFR2 transcript variant X9 XM_024447891.2:c.17= XM_024447891.2:c.17C>T XM_024447891.2:c.17C>A
FGFR2 transcript variant X9 XM_024447891.1:c.17= XM_024447891.1:c.17C>T XM_024447891.1:c.17C>A
FGFR2 transcript variant 10 NM_023028.1:c.-41= NM_023028.1:c.-41C>T NM_023028.1:c.-41C>A
FGFR2 transcript variant 5 NM_022972.1:c.-41= NM_022972.1:c.-41C>T NM_022972.1:c.-41C>A
FGFR2 transcript variant 2 NM_022969.1:c.-41= NM_022969.1:c.-41C>T NM_022969.1:c.-41C>A
FGFR2 transcript variant 12 NM_023030.1:c.-41= NM_023030.1:c.-41C>T NM_023030.1:c.-41C>A
FGFR2 transcript variant 13 NM_023031.1:c.-41= NM_023031.1:c.-41C>T NM_023031.1:c.-41C>A
FGFR2 transcript variant 9 NM_022976.1:c.-41= NM_022976.1:c.-41C>T NM_022976.1:c.-41C>A
FGFR2 transcript variant 7 NM_022974.1:c.-41= NM_022974.1:c.-41C>T NM_022974.1:c.-41C>A
FGFR2 transcript variant 6 NM_022973.1:c.-41= NM_022973.1:c.-41C>T NM_022973.1:c.-41C>A
FGFR2 transcript variant 8 NM_022975.1:c.-41= NM_022975.1:c.-41C>T NM_022975.1:c.-41C>A
FGFR2 transcript variant 4 NM_022971.1:c.-41= NM_022971.1:c.-41C>T NM_022971.1:c.-41C>A
fibroblast growth factor receptor 2 isoform X2 XP_006717773.1:p.Thr6= XP_006717773.1:p.Thr6Ile XP_006717773.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X1 XP_006717771.1:p.Thr6= XP_006717771.1:p.Thr6Ile XP_006717771.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X3 XP_016871409.1:p.Thr6= XP_016871409.1:p.Thr6Ile XP_016871409.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X4 XP_016871410.1:p.Thr6= XP_016871410.1:p.Thr6Ile XP_016871410.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X11 XP_016871414.1:p.Thr6= XP_016871414.1:p.Thr6Ile XP_016871414.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X10 XP_016871413.1:p.Thr6= XP_016871413.1:p.Thr6Ile XP_016871413.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X5 XP_024303658.1:p.Thr6= XP_024303658.1:p.Thr6Ile XP_024303658.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X6 XP_024303655.1:p.Thr6= XP_024303655.1:p.Thr6Ile XP_024303655.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X7 XP_024303656.1:p.Thr6= XP_024303656.1:p.Thr6Ile XP_024303656.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X8 XP_024303657.1:p.Thr6= XP_024303657.1:p.Thr6Ile XP_024303657.1:p.Thr6Lys
fibroblast growth factor receptor 2 isoform X9 XP_024303659.1:p.Thr6= XP_024303659.1:p.Thr6Ile XP_024303659.1:p.Thr6Lys
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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#.

5 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1690109863 Apr 01, 2015 (144)
2 GNOMAD ss2738572607 Nov 08, 2017 (151)
3 TOPMED ss4869198465 Apr 26, 2021 (155)
4 EVA ss5396545700 Oct 16, 2022 (156)
5 EVA ss5936041752 Oct 16, 2022 (156)
6 ExAC NC_000010.10 - 123353372 Oct 12, 2018 (152)
7 gnomAD - Exomes NC_000010.10 - 123353372 Jul 13, 2019 (153)
8 TopMed NC_000010.11 - 121593858 Apr 26, 2021 (155)
9 ALFA NC_000010.11 - 121593858 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
ss5936041752 NC_000010.10:123353371:G:A NC_000010.11:121593857:G:A
346792, 7776944, ss1690109863, ss2738572607, ss5396545700 NC_000010.10:123353371:G:T NC_000010.11:121593857:G:T (self)
84744120, 10468545234, ss4869198465 NC_000010.11:121593857:G:T NC_000010.11:121593857: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.

No publications for rs767413285

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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