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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.

rs7550295

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:9744635 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.062995 (20395/323758, ALFA)
T=0.131554 (34821/264690, TOPMED)
T=0.117789 (28439/241440, GnomAD_exome) (+ 25 more)
T=0.118914 (16666/140152, GnomAD)
T=0.133064 (13786/103604, ExAC)
T=0.19754 (15534/78636, PAGE_STUDY)
T=0.20716 (5854/28258, 14KJPN)
T=0.20167 (3380/16760, 8.3KJPN)
T=0.11258 (1464/13004, GO-ESP)
T=0.2024 (1296/6404, 1000G_30x)
T=0.1981 (992/5008, 1000G)
T=0.0467 (209/4480, Estonian)
T=0.0509 (196/3854, ALSPAC)
T=0.0512 (190/3708, TWINSUK)
T=0.1675 (490/2926, KOREAN)
T=0.1322 (275/2080, HGDP_Stanford)
T=0.1799 (340/1890, HapMap)
T=0.057 (57/998, GoNL)
T=0.080 (49/609, Vietnamese)
T=0.068 (41/600, NorthernSweden)
T=0.036 (19/534, MGP)
T=0.016 (4/258, FINRISK)
T=0.111 (24/216, Qatari)
C=0.441 (82/186, SGDP_PRJ)
T=0.12 (5/40, GENOME_DK)
T=0.00 (0/38, Ancient Sardinia)
C=0.50 (7/14, Siberian)
T=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CLSTN1 : 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 339466 C=0.934591 G=0.000000, T=0.065409
European Sub 287012 C=0.953803 G=0.000000, T=0.046197
African Sub 15420 C=0.76913 G=0.00000, T=0.23087
African Others Sub 540 C=0.735 G=0.000, T=0.265
African American Sub 14880 C=0.77036 G=0.00000, T=0.22964
Asian Sub 6902 C=0.8382 G=0.0000, T=0.1618
East Asian Sub 4946 C=0.8623 G=0.0000, T=0.1377
Other Asian Sub 1956 C=0.7771 G=0.0000, T=0.2229
Latin American 1 Sub 1108 C=0.9097 G=0.0000, T=0.0903
Latin American 2 Sub 7024 C=0.8339 G=0.0000, T=0.1661
South Asian Sub 5172 C=0.7349 G=0.0000, T=0.2651
Other Sub 16828 C=0.90314 G=0.00000, T=0.09686


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
Allele Frequency Aggregator Total Global 323758 C=0.937005 G=0.000000, T=0.062995
Allele Frequency Aggregator European Sub 277398 C=0.953716 G=0.000000, T=0.046284
Allele Frequency Aggregator Other Sub 15448 C=0.90290 G=0.00000, T=0.09710
Allele Frequency Aggregator African Sub 10706 C=0.78507 G=0.00000, T=0.21493
Allele Frequency Aggregator Latin American 2 Sub 7024 C=0.8339 G=0.0000, T=0.1661
Allele Frequency Aggregator Asian Sub 6902 C=0.8382 G=0.0000, T=0.1618
Allele Frequency Aggregator South Asian Sub 5172 C=0.7349 G=0.0000, T=0.2651
Allele Frequency Aggregator Latin American 1 Sub 1108 C=0.9097 G=0.0000, T=0.0903
TopMed Global Study-wide 264690 C=0.868446 T=0.131554
gnomAD - Exomes Global Study-wide 241440 C=0.882211 T=0.117789
gnomAD - Exomes European Sub 127804 C=0.953836 T=0.046164
gnomAD - Exomes Asian Sub 48390 C=0.77549 T=0.22451
gnomAD - Exomes American Sub 33920 C=0.80457 T=0.19543
gnomAD - Exomes African Sub 15518 C=0.74269 T=0.25731
gnomAD - Exomes Ashkenazi Jewish Sub 9880 C=0.9459 T=0.0541
gnomAD - Exomes Other Sub 5928 C=0.9126 T=0.0874
gnomAD - Genomes Global Study-wide 140152 C=0.881086 T=0.118914
gnomAD - Genomes European Sub 75958 C=0.95266 T=0.04734
gnomAD - Genomes African Sub 41938 C=0.75013 T=0.24987
gnomAD - Genomes American Sub 13650 C=0.87106 T=0.12894
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9449 T=0.0551
gnomAD - Genomes East Asian Sub 3130 C=0.8696 T=0.1304
gnomAD - Genomes Other Sub 2154 C=0.8886 T=0.1114
ExAC Global Study-wide 103604 C=0.866936 T=0.133064
ExAC Europe Sub 61176 C=0.94665 T=0.05335
ExAC Asian Sub 22710 C=0.75024 T=0.24976
ExAC American Sub 9968 C=0.7669 T=0.2331
ExAC African Sub 9002 C=0.7288 T=0.2712
ExAC Other Sub 748 C=0.886 T=0.114
The PAGE Study Global Study-wide 78636 C=0.80246 T=0.19754
The PAGE Study AfricanAmerican Sub 32456 C=0.75132 T=0.24868
The PAGE Study Mexican Sub 10810 C=0.81582 T=0.18418
The PAGE Study Asian Sub 8318 C=0.8030 T=0.1970
The PAGE Study PuertoRican Sub 7916 C=0.8881 T=0.1119
The PAGE Study NativeHawaiian Sub 4534 C=0.8161 T=0.1839
The PAGE Study Cuban Sub 4228 C=0.9073 T=0.0927
The PAGE Study Dominican Sub 3826 C=0.8615 T=0.1385
The PAGE Study CentralAmerican Sub 2450 C=0.8098 T=0.1902
The PAGE Study SouthAmerican Sub 1982 C=0.8335 T=0.1665
The PAGE Study NativeAmerican Sub 1260 C=0.8865 T=0.1135
The PAGE Study SouthAsian Sub 856 C=0.706 T=0.294
14KJPN JAPANESE Study-wide 28258 C=0.79284 T=0.20716
8.3KJPN JAPANESE Study-wide 16760 C=0.79833 T=0.20167
GO Exome Sequencing Project Global Study-wide 13004 C=0.88742 T=0.11258
GO Exome Sequencing Project European American Sub 8598 C=0.9491 T=0.0509
GO Exome Sequencing Project African American Sub 4406 C=0.7671 T=0.2329
1000Genomes_30x Global Study-wide 6404 C=0.7976 T=0.2024
1000Genomes_30x African Sub 1786 C=0.7217 T=0.2783
1000Genomes_30x Europe Sub 1266 C=0.9479 T=0.0521
1000Genomes_30x South Asian Sub 1202 C=0.6647 T=0.3353
1000Genomes_30x East Asian Sub 1170 C=0.8504 T=0.1496
1000Genomes_30x American Sub 980 C=0.842 T=0.158
1000Genomes Global Study-wide 5008 C=0.8019 T=0.1981
1000Genomes African Sub 1322 C=0.7277 T=0.2723
1000Genomes East Asian Sub 1008 C=0.8492 T=0.1508
1000Genomes Europe Sub 1006 C=0.9503 T=0.0497
1000Genomes South Asian Sub 978 C=0.676 T=0.324
1000Genomes American Sub 694 C=0.837 T=0.163
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9533 T=0.0467
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9491 T=0.0509
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9488 T=0.0512
KOREAN population from KRGDB KOREAN Study-wide 2926 C=0.8325 T=0.1675
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 C=0.8678 T=0.1322
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.885 T=0.115
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.831 T=0.169
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.957 T=0.043
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.978 T=0.022
HGDP-CEPH-db Supplement 1 Africa Sub 238 C=0.773 T=0.227
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.824 T=0.176
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.49 T=0.51
HapMap Global Study-wide 1890 C=0.8201 T=0.1799
HapMap American Sub 770 C=0.831 T=0.169
HapMap African Sub 690 C=0.778 T=0.222
HapMap Asian Sub 254 C=0.803 T=0.197
HapMap Europe Sub 176 C=0.960 T=0.040
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.943 T=0.057
A Vietnamese Genetic Variation Database Global Study-wide 609 C=0.920 T=0.080
Northern Sweden ACPOP Study-wide 600 C=0.932 T=0.068
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.964 T=0.036
FINRISK Finnish from FINRISK project Study-wide 258 C=0.984 T=0.016
Qatari Global Study-wide 216 C=0.889 T=0.111
SGDP_PRJ Global Study-wide 186 C=0.441 T=0.559
The Danish reference pan genome Danish Study-wide 40 C=0.88 T=0.12
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 C=1.00 T=0.00
Siberian Global Study-wide 14 C=0.50 T=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 1 NC_000001.11:g.9744635C>G
GRCh38.p14 chr 1 NC_000001.11:g.9744635C>T
GRCh37.p13 chr 1 NC_000001.10:g.9804693C>G
GRCh37.p13 chr 1 NC_000001.10:g.9804693C>T
Gene: CLSTN1, calsyntenin 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CLSTN1 transcript variant 3 NM_001302883.1:c.994G>C A [GCG] > P [CCG] Coding Sequence Variant
calsyntenin-1 isoform 3 precursor NP_001289812.1:p.Ala332Pro A (Ala) > P (Pro) Missense Variant
CLSTN1 transcript variant 3 NM_001302883.1:c.994G>A A [GCG] > T [ACG] Coding Sequence Variant
calsyntenin-1 isoform 3 precursor NP_001289812.1:p.Ala332Thr A (Ala) > T (Thr) Missense Variant
CLSTN1 transcript variant 2 NM_014944.4:c.964G>C A [GCG] > P [CCG] Coding Sequence Variant
calsyntenin-1 isoform 2 precursor NP_055759.3:p.Ala322Pro A (Ala) > P (Pro) Missense Variant
CLSTN1 transcript variant 2 NM_014944.4:c.964G>A A [GCG] > T [ACG] Coding Sequence Variant
calsyntenin-1 isoform 2 precursor NP_055759.3:p.Ala322Thr A (Ala) > T (Thr) Missense Variant
CLSTN1 transcript variant 1 NM_001009566.3:c.994G>C A [GCG] > P [CCG] Coding Sequence Variant
calsyntenin-1 isoform 1 precursor NP_001009566.1:p.Ala332Pro A (Ala) > P (Pro) Missense Variant
CLSTN1 transcript variant 1 NM_001009566.3:c.994G>A A [GCG] > T [ACG] Coding Sequence Variant
calsyntenin-1 isoform 1 precursor NP_001009566.1:p.Ala332Thr A (Ala) > T (Thr) Missense Variant
CLSTN1 transcript variant X1 XM_047449470.1:c.964G>C A [GCG] > P [CCG] Coding Sequence Variant
calsyntenin-1 isoform X1 XP_047305426.1:p.Ala322Pro A (Ala) > P (Pro) Missense Variant
CLSTN1 transcript variant X1 XM_047449470.1:c.964G>A A [GCG] > T [ACG] Coding Sequence Variant
calsyntenin-1 isoform X1 XP_047305426.1:p.Ala322Thr A (Ala) > T (Thr) 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 C= G T
GRCh38.p14 chr 1 NC_000001.11:g.9744635= NC_000001.11:g.9744635C>G NC_000001.11:g.9744635C>T
GRCh37.p13 chr 1 NC_000001.10:g.9804693= NC_000001.10:g.9804693C>G NC_000001.10:g.9804693C>T
CLSTN1 transcript variant 2 NM_014944.4:c.964= NM_014944.4:c.964G>C NM_014944.4:c.964G>A
CLSTN1 transcript variant 2 NM_014944.3:c.964= NM_014944.3:c.964G>C NM_014944.3:c.964G>A
CLSTN1 transcript variant 1 NM_001009566.3:c.994= NM_001009566.3:c.994G>C NM_001009566.3:c.994G>A
CLSTN1 transcript variant 1 NM_001009566.2:c.994= NM_001009566.2:c.994G>C NM_001009566.2:c.994G>A
CLSTN1 transcript variant 1 NM_001009566.1:c.994= NM_001009566.1:c.994G>C NM_001009566.1:c.994G>A
CLSTN1 transcript variant X1 XM_047449470.1:c.964= XM_047449470.1:c.964G>C XM_047449470.1:c.964G>A
CLSTN1 transcript variant 3 NM_001302883.1:c.994= NM_001302883.1:c.994G>C NM_001302883.1:c.994G>A
calsyntenin-1 isoform 2 precursor NP_055759.3:p.Ala322= NP_055759.3:p.Ala322Pro NP_055759.3:p.Ala322Thr
calsyntenin-1 isoform 1 precursor NP_001009566.1:p.Ala332= NP_001009566.1:p.Ala332Pro NP_001009566.1:p.Ala332Thr
calsyntenin-1 isoform X1 XP_047305426.1:p.Ala322= XP_047305426.1:p.Ala322Pro XP_047305426.1:p.Ala322Thr
calsyntenin-1 isoform 3 precursor NP_001289812.1:p.Ala332= NP_001289812.1:p.Ala332Pro NP_001289812.1:p.Ala332Thr
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#.

159 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11419289 Jul 11, 2003 (116)
2 ILLUMINA ss65729459 Oct 13, 2006 (127)
3 KRIBB_YJKIM ss65839572 Nov 29, 2006 (127)
4 ILLUMINA ss66691430 Nov 29, 2006 (127)
5 ILLUMINA ss67797135 Nov 29, 2006 (127)
6 ILLUMINA ss67970548 Nov 29, 2006 (127)
7 ILLUMINA ss70932997 May 26, 2008 (130)
8 ILLUMINA ss71535052 May 16, 2007 (127)
9 SI_EXO ss71648996 May 16, 2007 (127)
10 ILLUMINA ss75606236 Dec 07, 2007 (129)
11 ILLUMINA ss79260215 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss84676903 Dec 15, 2007 (130)
13 HGSV ss84812195 Dec 15, 2007 (130)
14 CORNELL ss86259101 Mar 23, 2008 (129)
15 BGI ss102718599 Dec 01, 2009 (131)
16 1000GENOMES ss110039892 Jan 24, 2009 (130)
17 ILLUMINA-UK ss118491432 Feb 14, 2009 (130)
18 ILLUMINA ss122775872 Dec 01, 2009 (131)
19 ILLUMINA ss154429453 Dec 01, 2009 (131)
20 ILLUMINA ss159604561 Dec 01, 2009 (131)
21 SEATTLESEQ ss159695999 Dec 01, 2009 (131)
22 ILLUMINA ss160887336 Dec 01, 2009 (131)
23 ILLUMINA ss172304616 Jul 04, 2010 (132)
24 ILLUMINA ss174412235 Jul 04, 2010 (132)
25 BUSHMAN ss198003021 Jul 04, 2010 (132)
26 1000GENOMES ss218231151 Jul 14, 2010 (132)
27 1000GENOMES ss230422826 Jul 14, 2010 (132)
28 1000GENOMES ss238138648 Jul 15, 2010 (132)
29 PJP ss290573876 May 09, 2011 (134)
30 NHLBI-ESP ss341931265 May 09, 2011 (134)
31 ILLUMINA ss481590963 May 04, 2012 (137)
32 ILLUMINA ss481620931 May 04, 2012 (137)
33 ILLUMINA ss482590895 Sep 08, 2015 (146)
34 ILLUMINA ss485590418 May 04, 2012 (137)
35 1000GENOMES ss489719375 May 04, 2012 (137)
36 EXOME_CHIP ss491285847 May 04, 2012 (137)
37 CLINSEQ_SNP ss491583908 May 04, 2012 (137)
38 ILLUMINA ss537481131 Sep 08, 2015 (146)
39 TISHKOFF ss553784152 Apr 25, 2013 (138)
40 SSMP ss647568045 Apr 25, 2013 (138)
41 ILLUMINA ss778605883 Sep 08, 2015 (146)
42 ILLUMINA ss780721206 Sep 08, 2015 (146)
43 ILLUMINA ss783240809 Sep 08, 2015 (146)
44 ILLUMINA ss783396864 Sep 08, 2015 (146)
45 ILLUMINA ss784194636 Sep 08, 2015 (146)
46 ILLUMINA ss825590733 Apr 01, 2015 (144)
47 ILLUMINA ss832501382 Sep 08, 2015 (146)
48 ILLUMINA ss833115552 Jul 12, 2019 (153)
49 ILLUMINA ss834063232 Sep 08, 2015 (146)
50 JMKIDD_LAB ss974433064 Aug 21, 2014 (142)
51 EVA-GONL ss974845153 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1067415823 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1067662509 Aug 21, 2014 (142)
54 1000GENOMES ss1289640452 Aug 21, 2014 (142)
55 EVA_GENOME_DK ss1573882250 Apr 01, 2015 (144)
56 EVA_FINRISK ss1584004415 Apr 01, 2015 (144)
57 EVA_DECODE ss1584203191 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1599526331 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1642520364 Apr 01, 2015 (144)
60 EVA_EXAC ss1685288342 Apr 01, 2015 (144)
61 EVA_MGP ss1710887311 Apr 01, 2015 (144)
62 EVA_SVP ss1712310469 Apr 01, 2015 (144)
63 ILLUMINA ss1751941203 Sep 08, 2015 (146)
64 ILLUMINA ss1751941204 Sep 08, 2015 (146)
65 HAMMER_LAB ss1793887619 Sep 08, 2015 (146)
66 ILLUMINA ss1917722379 Feb 12, 2016 (147)
67 WEILL_CORNELL_DGM ss1918043998 Feb 12, 2016 (147)
68 ILLUMINA ss1945984240 Feb 12, 2016 (147)
69 ILLUMINA ss1945984241 Feb 12, 2016 (147)
70 ILLUMINA ss1958240003 Feb 12, 2016 (147)
71 GENOMED ss1966682658 Jul 19, 2016 (147)
72 JJLAB ss2019536508 Sep 14, 2016 (149)
73 USC_VALOUEV ss2147532593 Dec 20, 2016 (150)
74 HUMAN_LONGEVITY ss2159959004 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2624284672 Nov 08, 2017 (151)
76 ILLUMINA ss2632475931 Nov 08, 2017 (151)
77 GRF ss2697429049 Nov 08, 2017 (151)
78 ILLUMINA ss2710661268 Nov 08, 2017 (151)
79 GNOMAD ss2731097245 Nov 08, 2017 (151)
80 GNOMAD ss2746208242 Nov 08, 2017 (151)
81 GNOMAD ss2751498498 Nov 08, 2017 (151)
82 AFFY ss2984844679 Nov 08, 2017 (151)
83 SWEGEN ss2986278789 Nov 08, 2017 (151)
84 ILLUMINA ss3021052947 Nov 08, 2017 (151)
85 ILLUMINA ss3021052948 Nov 08, 2017 (151)
86 ILLUMINA ss3625524918 Oct 11, 2018 (152)
87 ILLUMINA ss3626023618 Oct 11, 2018 (152)
88 ILLUMINA ss3626023619 Oct 11, 2018 (152)
89 ILLUMINA ss3630514683 Oct 11, 2018 (152)
90 ILLUMINA ss3632880432 Oct 11, 2018 (152)
91 ILLUMINA ss3633574224 Oct 11, 2018 (152)
92 ILLUMINA ss3634306192 Oct 11, 2018 (152)
93 ILLUMINA ss3634306193 Oct 11, 2018 (152)
94 ILLUMINA ss3635268358 Oct 11, 2018 (152)
95 ILLUMINA ss3635982418 Oct 11, 2018 (152)
96 ILLUMINA ss3637018724 Oct 11, 2018 (152)
97 ILLUMINA ss3637736623 Oct 11, 2018 (152)
98 ILLUMINA ss3638889708 Oct 11, 2018 (152)
99 ILLUMINA ss3639441706 Oct 11, 2018 (152)
100 ILLUMINA ss3640013556 Oct 11, 2018 (152)
101 ILLUMINA ss3640013557 Oct 11, 2018 (152)
102 ILLUMINA ss3640974576 Oct 11, 2018 (152)
103 ILLUMINA ss3641268423 Oct 11, 2018 (152)
104 ILLUMINA ss3642750532 Oct 11, 2018 (152)
105 ILLUMINA ss3644480088 Oct 11, 2018 (152)
106 ILLUMINA ss3644480089 Oct 11, 2018 (152)
107 OMUKHERJEE_ADBS ss3646220920 Oct 11, 2018 (152)
108 ILLUMINA ss3651376848 Oct 11, 2018 (152)
109 ILLUMINA ss3651376849 Oct 11, 2018 (152)
110 ILLUMINA ss3653618259 Oct 11, 2018 (152)
111 EGCUT_WGS ss3654378492 Jul 12, 2019 (153)
112 EVA_DECODE ss3686142634 Jul 12, 2019 (153)
113 ILLUMINA ss3724995264 Jul 12, 2019 (153)
114 ACPOP ss3726781205 Jul 12, 2019 (153)
115 ILLUMINA ss3744041792 Jul 12, 2019 (153)
116 ILLUMINA ss3744338840 Jul 12, 2019 (153)
117 ILLUMINA ss3744607174 Jul 12, 2019 (153)
118 ILLUMINA ss3744607175 Jul 12, 2019 (153)
119 EVA ss3745816404 Jul 12, 2019 (153)
120 PAGE_CC ss3770784577 Jul 12, 2019 (153)
121 ILLUMINA ss3772108795 Jul 12, 2019 (153)
122 ILLUMINA ss3772108796 Jul 12, 2019 (153)
123 KHV_HUMAN_GENOMES ss3798836681 Jul 12, 2019 (153)
124 EVA ss3823556819 Apr 25, 2020 (154)
125 EVA ss3825552700 Apr 25, 2020 (154)
126 EVA ss3826018799 Apr 25, 2020 (154)
127 HGDP ss3847324224 Apr 25, 2020 (154)
128 SGDP_PRJ ss3848171880 Apr 25, 2020 (154)
129 KRGDB ss3893048654 Apr 25, 2020 (154)
130 FSA-LAB ss3983914974 Apr 25, 2021 (155)
131 FSA-LAB ss3983914975 Apr 25, 2021 (155)
132 EVA ss3984778001 Apr 25, 2021 (155)
133 EVA ss3986097751 Apr 25, 2021 (155)
134 EVA ss4016892708 Apr 25, 2021 (155)
135 TOPMED ss4438861605 Apr 25, 2021 (155)
136 TOMMO_GENOMICS ss5142422929 Apr 25, 2021 (155)
137 EVA ss5236863924 Apr 25, 2021 (155)
138 EVA ss5237259765 Apr 25, 2021 (155)
139 1000G_HIGH_COVERAGE ss5241137591 Oct 12, 2022 (156)
140 EVA ss5314592234 Oct 12, 2022 (156)
141 EVA ss5316682549 Oct 12, 2022 (156)
142 HUGCELL_USP ss5442345362 Oct 12, 2022 (156)
143 EVA ss5505763804 Oct 12, 2022 (156)
144 1000G_HIGH_COVERAGE ss5512878896 Oct 12, 2022 (156)
145 EVA ss5623987107 Oct 12, 2022 (156)
146 SANFORD_IMAGENETICS ss5624196032 Oct 12, 2022 (156)
147 SANFORD_IMAGENETICS ss5624904429 Oct 12, 2022 (156)
148 TOMMO_GENOMICS ss5666707710 Oct 12, 2022 (156)
149 EVA ss5799474763 Oct 12, 2022 (156)
150 YY_MCH ss5800313715 Oct 12, 2022 (156)
151 EVA ss5831525532 Oct 12, 2022 (156)
152 EVA ss5847152361 Oct 12, 2022 (156)
153 EVA ss5847524829 Oct 12, 2022 (156)
154 EVA ss5848247187 Oct 12, 2022 (156)
155 EVA ss5848779634 Oct 12, 2022 (156)
156 EVA ss5907001922 Oct 12, 2022 (156)
157 EVA ss5936730967 Oct 12, 2022 (156)
158 EVA ss5979262485 Oct 12, 2022 (156)
159 EVA ss5981190106 Oct 12, 2022 (156)
160 1000Genomes NC_000001.10 - 9804693 Oct 11, 2018 (152)
161 1000Genomes_30x NC_000001.11 - 9744635 Oct 12, 2022 (156)
162 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 9804693 Oct 11, 2018 (152)
163 Genetic variation in the Estonian population NC_000001.10 - 9804693 Oct 11, 2018 (152)
164 ExAC NC_000001.10 - 9804693 Oct 11, 2018 (152)
165 FINRISK NC_000001.10 - 9804693 Apr 25, 2020 (154)
166 The Danish reference pan genome NC_000001.10 - 9804693 Apr 25, 2020 (154)
167 gnomAD - Genomes NC_000001.11 - 9744635 Apr 25, 2021 (155)
168 gnomAD - Exomes NC_000001.10 - 9804693 Jul 12, 2019 (153)
169 GO Exome Sequencing Project NC_000001.10 - 9804693 Oct 11, 2018 (152)
170 Genome of the Netherlands Release 5 NC_000001.10 - 9804693 Apr 25, 2020 (154)
171 HGDP-CEPH-db Supplement 1 NC_000001.9 - 9727280 Apr 25, 2020 (154)
172 HapMap NC_000001.11 - 9744635 Apr 25, 2020 (154)
173 KOREAN population from KRGDB NC_000001.10 - 9804693 Apr 25, 2020 (154)
174 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 9804693 Apr 25, 2020 (154)
175 Northern Sweden NC_000001.10 - 9804693 Jul 12, 2019 (153)
176 The PAGE Study NC_000001.11 - 9744635 Jul 12, 2019 (153)
177 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 9804693 Apr 25, 2021 (155)
178 Qatari NC_000001.10 - 9804693 Apr 25, 2020 (154)
179 SGDP_PRJ NC_000001.10 - 9804693 Apr 25, 2020 (154)
180 Siberian NC_000001.10 - 9804693 Apr 25, 2020 (154)
181 8.3KJPN NC_000001.10 - 9804693 Apr 25, 2021 (155)
182 14KJPN NC_000001.11 - 9744635 Oct 12, 2022 (156)
183 TopMed NC_000001.11 - 9744635 Apr 25, 2021 (155)
184 UK 10K study - Twins NC_000001.10 - 9804693 Oct 11, 2018 (152)
185 A Vietnamese Genetic Variation Database NC_000001.10 - 9804693 Jul 12, 2019 (153)
186 ALFA NC_000001.11 - 9744635 Apr 25, 2021 (155)
Help

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

Associated ID History Updated (Build)
rs60924364 May 26, 2008 (130)
rs117683544 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4944374983 NC_000001.11:9744634:C:G NC_000001.11:9744634:C:G (self)
ss84812195, ss3638889708, ss3639441706 NC_000001.8:9738958:C:T NC_000001.11:9744634:C:T (self)
2116, ss110039892, ss118491432, ss198003021, ss290573876, ss481590963, ss491583908, ss825590733, ss1584203191, ss1712310469, ss2710661268, ss3642750532, ss3847324224 NC_000001.9:9727279:C:T NC_000001.11:9744634:C:T (self)
315009, 162368, 116740, 4466615, 876, 1386098, 112598, 15548, 69806, 226048, 4063, 66070, 3928, 85928, 188860, 48947, 392236, 162368, 34394, ss218231151, ss230422826, ss238138648, ss341931265, ss481620931, ss482590895, ss485590418, ss489719375, ss491285847, ss537481131, ss553784152, ss647568045, ss778605883, ss780721206, ss783240809, ss783396864, ss784194636, ss832501382, ss833115552, ss834063232, ss974433064, ss974845153, ss1067415823, ss1067662509, ss1289640452, ss1573882250, ss1584004415, ss1599526331, ss1642520364, ss1685288342, ss1710887311, ss1751941203, ss1751941204, ss1793887619, ss1917722379, ss1918043998, ss1945984240, ss1945984241, ss1958240003, ss1966682658, ss2019536508, ss2147532593, ss2624284672, ss2632475931, ss2697429049, ss2731097245, ss2746208242, ss2751498498, ss2984844679, ss2986278789, ss3021052947, ss3021052948, ss3625524918, ss3626023618, ss3626023619, ss3630514683, ss3632880432, ss3633574224, ss3634306192, ss3634306193, ss3635268358, ss3635982418, ss3637018724, ss3637736623, ss3640013556, ss3640013557, ss3640974576, ss3641268423, ss3644480088, ss3644480089, ss3646220920, ss3651376848, ss3651376849, ss3653618259, ss3654378492, ss3726781205, ss3744041792, ss3744338840, ss3744607174, ss3744607175, ss3745816404, ss3772108795, ss3772108796, ss3823556819, ss3825552700, ss3826018799, ss3848171880, ss3893048654, ss3983914974, ss3983914975, ss3984778001, ss3986097751, ss4016892708, ss5142422929, ss5237259765, ss5314592234, ss5316682549, ss5505763804, ss5623987107, ss5624196032, ss5624904429, ss5799474763, ss5831525532, ss5847152361, ss5847524829, ss5848247187, ss5936730967, ss5979262485, ss5981190106 NC_000001.10:9804692:C:T NC_000001.11:9744634:C:T (self)
404831, 2188100, 11846, 6046, 544814, 2467940, 4944374983, ss2159959004, ss3686142634, ss3724995264, ss3770784577, ss3798836681, ss4438861605, ss5236863924, ss5241137591, ss5442345362, ss5512878896, ss5666707710, ss5800313715, ss5848779634, ss5907001922 NC_000001.11:9744634:C:T NC_000001.11:9744634:C:T (self)
ss11419289 NT_021937.15:316626:C:T NC_000001.11:9744634:C:T (self)
ss65729459, ss65839572, ss66691430, ss67797135, ss67970548, ss70932997, ss71535052, ss71648996, ss75606236, ss79260215, ss84676903, ss86259101, ss102718599, ss122775872, ss154429453, ss159604561, ss159695999, ss160887336, ss172304616, ss174412235 NT_021937.19:5809424:C:T NC_000001.11:9744634:C:T (self)
Help

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

No publications for rs7550295

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