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dbSNP Short Genetic Variations

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.

rs7688609

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:1806167 (GRCh38.p13) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.046160 (12218/264690, TOPMED)
G=0.010279 (2561/249150, GnomAD_exome)
G=0.009116 (1476/161914, ALFA) (+ 18 more)
G=0.042708 (5990/140256, GnomAD)
G=0.012694 (1516/119430, ExAC)
G=0.00000 (0/16760, 8.3KJPN)
G=0.04492 (584/13002, GO-ESP)
G=0.0439 (220/5008, 1000G)
G=0.0005 (2/3854, ALSPAC)
G=0.0000 (0/3708, TWINSUK)
G=0.0000 (0/2930, KOREAN)
G=0.0000 (0/1830, Korea1K)
G=0.132 (132/998, HapMap)
G=0.000 (0/616, Vietnamese)
G=0.000 (0/600, NorthernSweden)
G=0.023 (13/556, SGDP_PRJ)
G=0.013 (7/534, MGP)
G=0.000 (0/294, FINRISK)
G=0.019 (4/216, Qatari)
G=0.00 (0/56, Siberian)
G=0.00 (0/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FGFR3 : Synonymous Variant
Publications
3 citations
Genomic View
See rs on genome
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.p13 chr 4 NC_000004.12:g.1806167G>A
GRCh37.p13 chr 4 NC_000004.11:g.1807894G>A
FGFR3 RefSeqGene (LRG_1021) NG_012632.1:g.17856A>G
Gene: FGFR3, fibroblast growth factor receptor 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FGFR3 transcript variant 4 NM_001354809.2:c.1956G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform 4 precursor NP_001341738.1:p.Thr652= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant 5 NM_001354810.2:c.1956G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform 5 precursor NP_001341739.1:p.Thr652= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant 1 NM_000142.5:c.1953G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform 1 precursor NP_000133.1:p.Thr651= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant 2 NM_022965.4:c.1617G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform 2 precursor NP_075254.1:p.Thr539= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant 3 NM_001163213.2:c.1959G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform 3 precursor NP_001156685.1:p.Thr653= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant 6 NR_148971.2:n.2379G>A N/A Non Coding Transcript Variant
FGFR3 transcript variant X1 XM_006713868.1:c.1965G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform X1 XP_006713931.1:p.Thr655= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant X2 XM_006713869.1:c.1965G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform X2 XP_006713932.1:p.Thr655= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant X3 XM_006713870.1:c.1962G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform X3 XP_006713933.1:p.Thr654= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant X4 XM_006713871.1:c.1959G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform X4 XP_006713934.1:p.Thr653= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant X7 XM_006713873.1:c.1953G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform X7 XP_006713936.1:p.Thr651= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant X5 XM_011513420.1:c.1959G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform X5 XP_011511722.1:p.Thr653= T (Thr) > T (Thr) Synonymous Variant
FGFR3 transcript variant X6 XM_011513422.1:c.1956G>A T [ACG] > T [ACA] Coding Sequence Variant
fibroblast growth factor receptor 3 isoform X6 XP_011511724.1:p.Thr652= T (Thr) > T (Thr) 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: G= (allele ID: 369068 )
ClinVar Accession Disease Names Clinical Significance
RCV000445200.1 not specified Benign
RCV000552681.3 Craniosynostosis syndrome Likely-Benign
Allele: A (allele ID: 861287 )
ClinVar Accession Disease Names Clinical Significance
RCV001250950.1 Squamous cell lung carcinoma Likely-Benign

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 161914 G=0.009116 A=0.990884
European Sub 138652 G=0.000490 A=0.999510
African Sub 9562 G=0.1338 A=0.8662
African Others Sub 312 G=0.192 A=0.808
African American Sub 9250 G=0.1318 A=0.8682
Asian Sub 514 G=0.000 A=1.000
East Asian Sub 416 G=0.000 A=1.000
Other Asian Sub 98 G=0.00 A=1.00
Latin American 1 Sub 896 G=0.036 A=0.964
Latin American 2 Sub 966 G=0.009 A=0.991
South Asian Sub 178 G=0.000 A=1.000
Other Sub 11146 G=0.00790 A=0.99210


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=0.046160 A=0.953840
gnomAD - Exomes Global Study-wide 249150 G=0.010279 A=0.989721
gnomAD - Exomes European Sub 133730 G=0.000351 A=0.999649
gnomAD - Exomes Asian Sub 48918 G=0.00020 A=0.99980
gnomAD - Exomes American Sub 34464 G=0.00604 A=0.99396
gnomAD - Exomes African Sub 15986 G=0.14175 A=0.85825
gnomAD - Exomes Ashkenazi Jewish Sub 9976 G=0.0000 A=1.0000
gnomAD - Exomes Other Sub 6076 G=0.0049 A=0.9951
gnomAD - Genomes Global Study-wide 140256 G=0.042708 A=0.957292
gnomAD - Genomes European Sub 75958 G=0.00036 A=0.99964
gnomAD - Genomes African Sub 42018 G=0.13706 A=0.86294
gnomAD - Genomes American Sub 13668 G=0.00988 A=0.99012
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.0000 A=1.0000
gnomAD - Genomes East Asian Sub 3134 G=0.0000 A=1.0000
gnomAD - Genomes Other Sub 2154 G=0.0320 A=0.9680
ExAC Global Study-wide 119430 G=0.012694 A=0.987306
ExAC Europe Sub 71850 G=0.00042 A=0.99958
ExAC Asian Sub 25072 G=0.00004 A=0.99996
ExAC American Sub 11480 G=0.00679 A=0.99321
ExAC African Sub 10150 G=0.13813 A=0.86187
ExAC Other Sub 878 G=0.006 A=0.994
8.3KJPN JAPANESE Study-wide 16760 G=0.00000 A=1.00000
GO Exome Sequencing Project Global Study-wide 13002 G=0.04492 A=0.95508
GO Exome Sequencing Project European American Sub 8598 G=0.0008 A=0.9992
GO Exome Sequencing Project African American Sub 4404 G=0.1310 A=0.8690
1000Genomes Global Study-wide 5008 G=0.0439 A=0.9561
1000Genomes African Sub 1322 G=0.1619 A=0.8381
1000Genomes East Asian Sub 1008 G=0.0000 A=1.0000
1000Genomes Europe Sub 1006 G=0.0000 A=1.0000
1000Genomes South Asian Sub 978 G=0.000 A=1.000
1000Genomes American Sub 694 G=0.009 A=0.991
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0005 A=0.9995
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0000 A=1.0000
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0000 A=1.0000
Korean Genome Project KOREAN Study-wide 1830 G=0.0000 A=1.0000
HapMap Global Study-wide 998 G=0.132 A=0.868
HapMap African Sub 692 G=0.168 A=0.832
HapMap American Sub 218 G=0.073 A=0.927
HapMap Asian Sub 88 G=0.00 A=1.00
A Vietnamese Genetic Variation Database Global Study-wide 616 G=0.000 A=1.000
Northern Sweden ACPOP Study-wide 600 G=0.000 A=1.000
SGDP_PRJ Global Study-wide 556 G=0.023 A=0.977
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.013 A=0.987
FINRISK Finnish from FINRISK project Study-wide 294 G=0.000 A=1.000
Qatari Global Study-wide 216 G=0.019 A=0.981
Siberian Global Study-wide 56 G=0.00 A=1.00
The Danish reference pan genome Danish Study-wide 40 G=0.00 A=1.00
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
GRCh38.p13 chr 4 NC_000004.12:g.1806167= NC_000004.12:g.1806167G>A
GRCh37.p13 chr 4 NC_000004.11:g.1807894= NC_000004.11:g.1807894G>A
FGFR3 RefSeqGene (LRG_1021) NG_012632.1:g.17856A>G NG_012632.1:g.17856=
FGFR3 transcript variant 1 NM_000142.5:c.1953= NM_000142.5:c.1953G>A
FGFR3 transcript variant 1 NM_000142.4:c.1953A>G NM_000142.4:c.1953=
FGFR3 transcript variant 2 NM_022965.4:c.1617= NM_022965.4:c.1617G>A
FGFR3 transcript variant 2 NM_022965.3:c.1617A>G NM_022965.3:c.1617=
FGFR3 transcript variant 6 NR_148971.2:n.2379= NR_148971.2:n.2379G>A
FGFR3 transcript variant 6 NR_148971.1:n.2360A>G NR_148971.1:n.2360=
FGFR3 transcript variant 3 NM_001163213.2:c.1959= NM_001163213.2:c.1959G>A
FGFR3 transcript variant 3 NM_001163213.1:c.1959A>G NM_001163213.1:c.1959=
FGFR3 transcript variant 4 NM_001354809.2:c.1956= NM_001354809.2:c.1956G>A
FGFR3 transcript variant 4 NM_001354809.1:c.1956A>G NM_001354809.1:c.1956=
FGFR3 transcript variant 5 NM_001354810.2:c.1956= NM_001354810.2:c.1956G>A
FGFR3 transcript variant 5 NM_001354810.1:c.1956A>G NM_001354810.1:c.1956=
FGFR3 transcript variant X1 XM_006713868.1:c.1965= XM_006713868.1:c.1965G>A
FGFR3 transcript variant X3 XM_006713870.1:c.1962= XM_006713870.1:c.1962G>A
FGFR3 transcript variant X2 XM_006713869.1:c.1965= XM_006713869.1:c.1965G>A
FGFR3 transcript variant X5 XM_011513420.1:c.1959= XM_011513420.1:c.1959G>A
FGFR3 transcript variant X4 XM_006713871.1:c.1959= XM_006713871.1:c.1959G>A
FGFR3 transcript variant X6 XM_011513422.1:c.1956= XM_011513422.1:c.1956G>A
FGFR3 transcript variant X7 XM_006713873.1:c.1953= XM_006713873.1:c.1953G>A
fibroblast growth factor receptor 3 isoform 1 precursor NP_000133.1:p.Thr651= NP_000133.1:p.Thr651=
fibroblast growth factor receptor 3 isoform 2 precursor NP_075254.1:p.Thr539= NP_075254.1:p.Thr539=
fibroblast growth factor receptor 3 isoform 3 precursor NP_001156685.1:p.Thr653= NP_001156685.1:p.Thr653=
fibroblast growth factor receptor 3 isoform 4 precursor NP_001341738.1:p.Thr652= NP_001341738.1:p.Thr652=
fibroblast growth factor receptor 3 isoform 5 precursor NP_001341739.1:p.Thr652= NP_001341739.1:p.Thr652=
fibroblast growth factor receptor 3 isoform X1 XP_006713931.1:p.Thr655= XP_006713931.1:p.Thr655=
fibroblast growth factor receptor 3 isoform X3 XP_006713933.1:p.Thr654= XP_006713933.1:p.Thr654=
fibroblast growth factor receptor 3 isoform X2 XP_006713932.1:p.Thr655= XP_006713932.1:p.Thr655=
fibroblast growth factor receptor 3 isoform X5 XP_011511722.1:p.Thr653= XP_011511722.1:p.Thr653=
fibroblast growth factor receptor 3 isoform X4 XP_006713934.1:p.Thr653= XP_006713934.1:p.Thr653=
fibroblast growth factor receptor 3 isoform X6 XP_011511724.1:p.Thr652= XP_011511724.1:p.Thr652=
fibroblast growth factor receptor 3 isoform X7 XP_006713936.1:p.Thr651= XP_006713936.1:p.Thr651=
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#.

125 SubSNP, 21 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11674387 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss17002720 Feb 27, 2004 (120)
3 SSAHASNP ss22102565 Apr 05, 2004 (121)
4 EGP_SNPS ss28528462 Dec 02, 2004 (126)
5 ILLUMINA ss75047808 Dec 07, 2007 (129)
6 HGSV ss77293695 Dec 07, 2007 (129)
7 HGSV ss82127664 Dec 14, 2007 (130)
8 CORNELL ss86242401 Mar 23, 2008 (129)
9 BCMHGSC_JDW ss92440179 Mar 24, 2008 (129)
10 HUMANGENOME_JCVI ss98795372 Feb 04, 2009 (130)
11 BGI ss105799417 Feb 04, 2009 (130)
12 1000GENOMES ss111659925 Jan 25, 2009 (130)
13 1000GENOMES ss112847989 Jan 25, 2009 (130)
14 ILLUMINA-UK ss116837896 Feb 14, 2009 (130)
15 KRIBB_YJKIM ss119564249 Dec 01, 2009 (131)
16 ENSEMBL ss133319875 Dec 01, 2009 (131)
17 ENSEMBL ss139395886 Dec 01, 2009 (131)
18 GMI ss156747948 Dec 01, 2009 (131)
19 SEATTLESEQ ss159707047 Dec 01, 2009 (131)
20 ILLUMINA ss160903887 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss161889739 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss162997938 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss166001817 Jul 04, 2010 (132)
24 ILLUMINA ss174495856 Jul 04, 2010 (132)
25 BUSHMAN ss197899441 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss206362476 Jul 04, 2010 (132)
27 1000GENOMES ss220694584 Jul 14, 2010 (132)
28 1000GENOMES ss232225819 Jul 14, 2010 (132)
29 1000GENOMES ss239554854 Jul 15, 2010 (132)
30 BL ss252875818 May 09, 2011 (134)
31 GMI ss277539877 May 04, 2012 (137)
32 GMI ss284829514 Apr 25, 2013 (138)
33 PJP ss293054185 May 09, 2011 (134)
34 NHLBI-ESP ss342157538 May 09, 2011 (134)
35 ILLUMINA ss481643313 May 04, 2012 (137)
36 ILLUMINA ss481673883 May 04, 2012 (137)
37 ILLUMINA ss482640588 Sep 08, 2015 (146)
38 ILLUMINA ss484072595 May 04, 2012 (137)
39 ILLUMINA ss484759085 May 04, 2012 (137)
40 ILLUMINA ss485616414 May 04, 2012 (137)
41 1000GENOMES ss490882380 May 04, 2012 (137)
42 CLINSEQ_SNP ss491849913 May 04, 2012 (137)
43 ILLUMINA ss536263132 Sep 08, 2015 (146)
44 TISHKOFF ss557255258 Apr 25, 2013 (138)
45 SSMP ss651009073 Apr 25, 2013 (138)
46 ILLUMINA ss779151621 Sep 08, 2015 (146)
47 ILLUMINA ss782481121 Sep 08, 2015 (146)
48 ILLUMINA ss783253817 Sep 08, 2015 (146)
49 ILLUMINA ss832514627 Sep 08, 2015 (146)
50 ILLUMINA ss834616489 Sep 08, 2015 (146)
51 JMKIDD_LAB ss974451515 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1067458953 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1071216035 Aug 21, 2014 (142)
54 1000GENOMES ss1308094596 Aug 21, 2014 (142)
55 DDI ss1429740518 Apr 01, 2015 (144)
56 EVA_GENOME_DK ss1580381011 Apr 01, 2015 (144)
57 EVA_FINRISK ss1584032836 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1609239089 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1652233122 Apr 01, 2015 (144)
60 EVA_EXAC ss1687389769 Apr 01, 2015 (144)
61 EVA_MGP ss1711049102 Apr 01, 2015 (144)
62 EVA_SVP ss1712645724 Apr 01, 2015 (144)
63 ILLUMINA ss1752511438 Sep 08, 2015 (146)
64 HAMMER_LAB ss1800804445 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1922906296 Feb 12, 2016 (147)
66 GENOMED ss1966658484 Feb 12, 2016 (147)
67 JJLAB ss2022026596 Sep 14, 2016 (149)
68 CLINVAR ss2137499257 Apr 13, 2017 (150)
69 CLINVAR ss2137505638 Apr 18, 2017 (150)
70 USC_VALOUEV ss2150133141 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2259839020 Dec 20, 2016 (150)
72 TOPMED ss2427232752 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2625514331 Nov 08, 2017 (151)
74 ILLUMINA ss2634071182 Nov 08, 2017 (151)
75 ILLUMINA ss2634071183 Nov 08, 2017 (151)
76 GRF ss2705567572 Nov 08, 2017 (151)
77 GNOMAD ss2734346908 Nov 08, 2017 (151)
78 GNOMAD ss2747187156 Nov 08, 2017 (151)
79 GNOMAD ss2804705169 Nov 08, 2017 (151)
80 AFFY ss2985283112 Nov 08, 2017 (151)
81 SWEGEN ss2993995310 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3024783119 Nov 08, 2017 (151)
83 CSHL ss3345499471 Nov 08, 2017 (151)
84 TOPMED ss3418258942 Nov 08, 2017 (151)
85 ILLUMINA ss3628884078 Oct 12, 2018 (152)
86 ILLUMINA ss3632010764 Oct 12, 2018 (152)
87 ILLUMINA ss3634041758 Oct 12, 2018 (152)
88 ILLUMINA ss3634937273 Oct 12, 2018 (152)
89 ILLUMINA ss3635724972 Oct 12, 2018 (152)
90 ILLUMINA ss3636636045 Oct 12, 2018 (152)
91 ILLUMINA ss3637477438 Oct 12, 2018 (152)
92 ILLUMINA ss3638467628 Oct 12, 2018 (152)
93 ILLUMINA ss3640644569 Oct 12, 2018 (152)
94 ILLUMINA ss3643420521 Oct 12, 2018 (152)
95 OMUKHERJEE_ADBS ss3646300227 Oct 12, 2018 (152)
96 URBANLAB ss3647632934 Oct 12, 2018 (152)
97 ILLUMINA ss3654053498 Oct 12, 2018 (152)
98 EVA_DECODE ss3711240588 Jul 13, 2019 (153)
99 ACPOP ss3730779572 Jul 13, 2019 (153)
100 ILLUMINA ss3745237517 Jul 13, 2019 (153)
101 EVA ss3761287303 Jul 13, 2019 (153)
102 ILLUMINA ss3772732323 Jul 13, 2019 (153)
103 PACBIO ss3784595121 Jul 13, 2019 (153)
104 PACBIO ss3790068752 Jul 13, 2019 (153)
105 PACBIO ss3794943821 Jul 13, 2019 (153)
106 KHV_HUMAN_GENOMES ss3804426911 Jul 13, 2019 (153)
107 EVA ss3823994126 Apr 25, 2020 (154)
108 EVA ss3825651632 Apr 25, 2020 (154)
109 EVA ss3828326994 Apr 25, 2020 (154)
110 EVA ss3837594404 Apr 25, 2020 (154)
111 EVA ss3843027763 Apr 25, 2020 (154)
112 SGDP_PRJ ss3858028122 Apr 25, 2020 (154)
113 KRGDB ss3904156759 Apr 25, 2020 (154)
114 KOGIC ss3953358392 Apr 25, 2020 (154)
115 FSA-LAB ss3984275233 Apr 26, 2021 (155)
116 FSA-LAB ss3984275234 Apr 26, 2021 (155)
117 EVA ss3986026470 Apr 26, 2021 (155)
118 EVA ss3986270280 Apr 26, 2021 (155)
119 EVA ss4017128962 Apr 26, 2021 (155)
120 TOPMED ss4600228153 Apr 26, 2021 (155)
121 TOMMO_GENOMICS ss5163826531 Apr 26, 2021 (155)
122 CPQ_GEN_INCA ss5236854783 Apr 26, 2021 (155)
123 CPQ_GEN_INCA ss5236859934 Apr 26, 2021 (155)
124 EVA ss5237003978 Apr 26, 2021 (155)
125 EVA ss5237180687 Apr 26, 2021 (155)
126 1000Genomes NC_000004.11 - 1807894 Oct 12, 2018 (152)
127 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 1807894 Oct 12, 2018 (152)
128 ExAC NC_000004.11 - 1807894 Oct 12, 2018 (152)
129 FINRISK NC_000004.11 - 1807894 Apr 25, 2020 (154)
130 The Danish reference pan genome NC_000004.11 - 1807894 Apr 25, 2020 (154)
131 gnomAD - Genomes NC_000004.12 - 1806167 Apr 26, 2021 (155)
132 gnomAD - Exomes NC_000004.11 - 1807894 Jul 13, 2019 (153)
133 GO Exome Sequencing Project NC_000004.11 - 1807894 Oct 12, 2018 (152)
134 HapMap NC_000004.12 - 1806167 Apr 25, 2020 (154)
135 KOREAN population from KRGDB NC_000004.11 - 1807894 Apr 25, 2020 (154)
136 Korean Genome Project NC_000004.12 - 1806167 Apr 25, 2020 (154)
137 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 1807894 Apr 25, 2020 (154)
138 Northern Sweden NC_000004.11 - 1807894 Jul 13, 2019 (153)
139 Qatari NC_000004.11 - 1807894 Apr 25, 2020 (154)
140 SGDP_PRJ NC_000004.11 - 1807894 Apr 25, 2020 (154)
141 Siberian NC_000004.11 - 1807894 Apr 25, 2020 (154)
142 8.3KJPN NC_000004.11 - 1807894 Apr 26, 2021 (155)
143 TopMed NC_000004.12 - 1806167 Apr 26, 2021 (155)
144 UK 10K study - Twins NC_000004.11 - 1807894 Oct 12, 2018 (152)
145 A Vietnamese Genetic Variation Database NC_000004.11 - 1807894 Jul 13, 2019 (153)
146 ALFA NC_000004.12 - 1806167 Apr 26, 2021 (155)
147 ClinVar RCV000445200.1 Oct 12, 2018 (152)
148 ClinVar RCV000552681.3 Apr 26, 2021 (155)
149 ClinVar RCV001250950.1 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).

Associated ID History Updated (Build)
rs17878368 Mar 10, 2006 (126)
rs57236619 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77293695, ss82127664 NC_000004.9:1775124:G:A NC_000004.12:1806166:G:A (self)
ss92440179, ss111659925, ss112847989, ss116837896, ss161889739, ss162997938, ss166001817, ss197899441, ss206362476, ss252875818, ss277539877, ss284829514, ss293054185, ss481643313, ss484759085, ss491849913, ss1712645724, ss3643420521 NC_000004.10:1777691:G:A NC_000004.12:1806166:G:A (self)
19432717, 10831359, 7345916, 29297, 6545950, 3446720, 452379, 11334153, 164862, 4064437, 4948226, 10045102, 2649495, 21795838, 10831359, 2368012, ss220694584, ss232225819, ss239554854, ss342157538, ss481673883, ss482640588, ss484072595, ss485616414, ss490882380, ss536263132, ss557255258, ss651009073, ss779151621, ss782481121, ss783253817, ss832514627, ss834616489, ss974451515, ss1067458953, ss1071216035, ss1308094596, ss1429740518, ss1580381011, ss1584032836, ss1609239089, ss1652233122, ss1687389769, ss1711049102, ss1752511438, ss1800804445, ss1922906296, ss1966658484, ss2022026596, ss2150133141, ss2427232752, ss2625514331, ss2634071182, ss2634071183, ss2705567572, ss2734346908, ss2747187156, ss2804705169, ss2985283112, ss2993995310, ss3345499471, ss3628884078, ss3632010764, ss3634041758, ss3634937273, ss3635724972, ss3636636045, ss3637477438, ss3638467628, ss3640644569, ss3646300227, ss3654053498, ss3730779572, ss3745237517, ss3761287303, ss3772732323, ss3784595121, ss3790068752, ss3794943821, ss3823994126, ss3825651632, ss3828326994, ss3837594404, ss3858028122, ss3904156759, ss3984275233, ss3984275234, ss3986026470, ss3986270280, ss4017128962, ss5163826531, ss5236854783, ss5236859934 NC_000004.11:1807893:G:A NC_000004.12:1806166:G:A (self)
RCV001250950.1, 137958509, 2543343, 9736393, 273549195, 437605709, 7620238408, ss2137499257, ss2137505638, ss2259839020, ss3024783119, ss3418258942, ss3647632934, ss3711240588, ss3804426911, ss3843027763, ss3953358392, ss4600228153, ss5237003978, ss5237180687 NC_000004.12:1806166:G:A NC_000004.12:1806166:G:A (self)
ss28528462, ss75047808, ss86242401, ss98795372, ss105799417, ss119564249, ss133319875, ss139395886, ss156747948, ss159707047, ss160903887, ss174495856 NT_006051.18:329247:G:A NC_000004.12:1806166:G:A (self)
ss11674387 NT_037623.3:310795:G:A NC_000004.12:1806166:G:A (self)
ss17002720, ss22102565 NT_037623.4:311148:G:A NC_000004.12:1806166:G:A (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.

3 citations for rs7688609
PMID Title Author Year Journal
19855393 Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Goriely A et al. 2009 Nature genetics
21264207 Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers. Gonzalez-Bosquet J et al. 2011 PloS one
32368160 Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis. Jastania RA et al. 2020 International medical case reports journal
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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
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.post596+ae089ad