Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs3737757

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:30988454 (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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.066810 (17684/264690, TOPMED)
T=0.066425 (9310/140158, GnomAD)
T=0.05207 (2077/39892, ALFA) (+ 18 more)
T=0.30331 (8571/28258, 14KJPN)
T=0.30322 (5082/16760, 8.3KJPN)
T=0.1071 (686/6404, 1000G_30x)
T=0.1126 (564/5008, 1000G)
T=0.0942 (422/4480, Estonian)
T=0.0584 (225/3854, ALSPAC)
T=0.0601 (223/3708, TWINSUK)
T=0.2669 (782/2930, KOREAN)
T=0.1239 (162/1308, HapMap)
T=0.0827 (94/1136, Daghestan)
T=0.070 (70/998, GoNL)
T=0.152 (95/626, Chileans)
T=0.098 (59/600, NorthernSweden)
T=0.037 (8/216, Qatari)
T=0.292 (63/216, Vietnamese)
C=0.432 (57/132, SGDP_PRJ)
T=0.07 (3/40, GENOME_DK)
C=0.39 (7/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PUM1 : Intron 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 39892 C=0.94793 A=0.00000, T=0.05207
European Sub 29126 C=0.94833 A=0.00000, T=0.05167
African Sub 4904 C=0.9935 A=0.0000, T=0.0065
African Others Sub 164 C=1.000 A=0.000, T=0.000
African American Sub 4740 C=0.9932 A=0.0000, T=0.0068
Asian Sub 136 C=0.816 A=0.000, T=0.184
East Asian Sub 88 C=0.84 A=0.00, T=0.16
Other Asian Sub 48 C=0.77 A=0.00, T=0.23
Latin American 1 Sub 310 C=0.968 A=0.000, T=0.032
Latin American 2 Sub 2746 C=0.8791 A=0.0000, T=0.1209
South Asian Sub 106 C=0.981 A=0.000, T=0.019
Other Sub 2564 C=0.9333 A=0.0000, T=0.0667


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 C=0.933190 T=0.066810
gnomAD - Genomes Global Study-wide 140158 C=0.933575 T=0.066425
gnomAD - Genomes European Sub 75886 C=0.92476 T=0.07524
gnomAD - Genomes African Sub 42032 C=0.98396 T=0.01604
gnomAD - Genomes American Sub 13640 C=0.87632 T=0.12368
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9483 T=0.0517
gnomAD - Genomes East Asian Sub 3128 C=0.7120 T=0.2880
gnomAD - Genomes Other Sub 2148 C=0.9227 T=0.0773
Allele Frequency Aggregator Total Global 39892 C=0.94793 A=0.00000, T=0.05207
Allele Frequency Aggregator European Sub 29126 C=0.94833 A=0.00000, T=0.05167
Allele Frequency Aggregator African Sub 4904 C=0.9935 A=0.0000, T=0.0065
Allele Frequency Aggregator Latin American 2 Sub 2746 C=0.8791 A=0.0000, T=0.1209
Allele Frequency Aggregator Other Sub 2564 C=0.9333 A=0.0000, T=0.0667
Allele Frequency Aggregator Latin American 1 Sub 310 C=0.968 A=0.000, T=0.032
Allele Frequency Aggregator Asian Sub 136 C=0.816 A=0.000, T=0.184
Allele Frequency Aggregator South Asian Sub 106 C=0.981 A=0.000, T=0.019
14KJPN JAPANESE Study-wide 28258 C=0.69669 T=0.30331
8.3KJPN JAPANESE Study-wide 16760 C=0.69678 T=0.30322
1000Genomes_30x Global Study-wide 6404 C=0.8929 T=0.1071
1000Genomes_30x African Sub 1786 C=0.9978 T=0.0022
1000Genomes_30x Europe Sub 1266 C=0.9281 T=0.0719
1000Genomes_30x South Asian Sub 1202 C=0.8686 T=0.1314
1000Genomes_30x East Asian Sub 1170 C=0.7308 T=0.2692
1000Genomes_30x American Sub 980 C=0.880 T=0.120
1000Genomes Global Study-wide 5008 C=0.8874 T=0.1126
1000Genomes African Sub 1322 C=0.9977 T=0.0023
1000Genomes East Asian Sub 1008 C=0.7321 T=0.2679
1000Genomes Europe Sub 1006 C=0.9254 T=0.0746
1000Genomes South Asian Sub 978 C=0.868 T=0.132
1000Genomes American Sub 694 C=0.875 T=0.125
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9058 T=0.0942
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9416 T=0.0584
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9399 T=0.0601
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7331 G=0.0000, T=0.2669
HapMap Global Study-wide 1308 C=0.8761 T=0.1239
HapMap American Sub 770 C=0.895 T=0.105
HapMap Asian Sub 254 C=0.732 T=0.268
HapMap Europe Sub 176 C=0.932 T=0.068
HapMap African Sub 108 C=0.991 T=0.009
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.9173 T=0.0827
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.935 T=0.065
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.972 T=0.028
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.811 T=0.189
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.917 T=0.083
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.87 T=0.13
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.89 T=0.11
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.930 T=0.070
Chileans Chilean Study-wide 626 C=0.848 T=0.152
Northern Sweden ACPOP Study-wide 600 C=0.902 T=0.098
Qatari Global Study-wide 216 C=0.963 T=0.037
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.708 T=0.292
SGDP_PRJ Global Study-wide 132 C=0.432 T=0.568
The Danish reference pan genome Danish Study-wide 40 C=0.93 T=0.07
Siberian Global Study-wide 18 C=0.39 T=0.61
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.30988454C>A
GRCh38.p14 chr 1 NC_000001.11:g.30988454C>G
GRCh38.p14 chr 1 NC_000001.11:g.30988454C>T
GRCh37.p13 chr 1 NC_000001.10:g.31461301C>A
GRCh37.p13 chr 1 NC_000001.10:g.31461301C>G
GRCh37.p13 chr 1 NC_000001.10:g.31461301C>T
Gene: PUM1, pumilio RNA binding family member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PUM1 transcript variant 1 NM_001020658.2:c.1158+393…

NM_001020658.2:c.1158+3936G>T

N/A Intron Variant
PUM1 transcript variant 2 NM_014676.3:c.1158+3936G>T N/A Intron 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= A G T
GRCh38.p14 chr 1 NC_000001.11:g.30988454= NC_000001.11:g.30988454C>A NC_000001.11:g.30988454C>G NC_000001.11:g.30988454C>T
GRCh37.p13 chr 1 NC_000001.10:g.31461301= NC_000001.10:g.31461301C>A NC_000001.10:g.31461301C>G NC_000001.10:g.31461301C>T
PRO0611 transcript NM_014076.1:c.-125= NM_014076.1:c.-125C>A NM_014076.1:c.-125C>G NM_014076.1:c.-125C>T
PRO0611 transcript NR_002762.1:n.390= NR_002762.1:n.390C>A NR_002762.1:n.390C>G NR_002762.1:n.390C>T
PUM1 transcript variant 1 NM_001020658.1:c.1158+3936= NM_001020658.1:c.1158+3936G>T NM_001020658.1:c.1158+3936G>C NM_001020658.1:c.1158+3936G>A
PUM1 transcript variant 1 NM_001020658.2:c.1158+3936= NM_001020658.2:c.1158+3936G>T NM_001020658.2:c.1158+3936G>C NM_001020658.2:c.1158+3936G>A
PUM1 transcript variant 2 NM_014676.2:c.1158+3936= NM_014676.2:c.1158+3936G>T NM_014676.2:c.1158+3936G>C NM_014676.2:c.1158+3936G>A
PUM1 transcript variant 2 NM_014676.3:c.1158+3936= NM_014676.3:c.1158+3936G>T NM_014676.3:c.1158+3936G>C NM_014676.3:c.1158+3936G>A
PUM1 transcript variant X1 XM_005271357.1:c.1266+3936= XM_005271357.1:c.1266+3936G>T XM_005271357.1:c.1266+3936G>C XM_005271357.1:c.1266+3936G>A
PUM1 transcript variant X2 XM_005271358.1:c.1266+3936= XM_005271358.1:c.1266+3936G>T XM_005271358.1:c.1266+3936G>C XM_005271358.1:c.1266+3936G>A
PUM1 transcript variant X3 XM_005271359.1:c.1266+3936= XM_005271359.1:c.1266+3936G>T XM_005271359.1:c.1266+3936G>C XM_005271359.1:c.1266+3936G>A
PUM1 transcript variant X4 XM_005271360.1:c.1158+3936= XM_005271360.1:c.1158+3936G>T XM_005271360.1:c.1158+3936G>C XM_005271360.1:c.1158+3936G>A
PUM1 transcript variant X5 XM_005271361.1:c.978+3936= XM_005271361.1:c.978+3936G>T XM_005271361.1:c.978+3936G>C XM_005271361.1:c.978+3936G>A
PUM1 transcript variant X6 XM_005271362.1:c.870+3936= XM_005271362.1:c.870+3936G>T XM_005271362.1:c.870+3936G>C XM_005271362.1:c.870+3936G>A
PUM1 transcript variant X7 XM_005271363.1:c.433-7049= XM_005271363.1:c.433-7049G>T XM_005271363.1:c.433-7049G>C XM_005271363.1:c.433-7049G>A
PUM1 transcript variant X8 XM_005271364.1:c.369+3936= XM_005271364.1:c.369+3936G>T XM_005271364.1:c.369+3936G>C XM_005271364.1:c.369+3936G>A
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#.

68 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4923756 Aug 28, 2002 (107)
2 ILLUMINA ss75170227 Dec 06, 2007 (129)
3 AFFY ss76674667 Dec 06, 2007 (129)
4 BCMHGSC_JDW ss87336622 Mar 23, 2008 (129)
5 BGI ss102731683 Dec 01, 2009 (131)
6 1000GENOMES ss108098129 Jan 22, 2009 (130)
7 KRIBB_YJKIM ss119457981 Dec 01, 2009 (131)
8 ENSEMBL ss137870469 Dec 01, 2009 (131)
9 ILLUMINA ss173616021 Jul 04, 2010 (132)
10 1000GENOMES ss230480236 Jul 14, 2010 (132)
11 1000GENOMES ss238184270 Jul 15, 2010 (132)
12 GMI ss275771231 May 04, 2012 (137)
13 ILLUMINA ss482314641 May 04, 2012 (137)
14 ILLUMINA ss484319214 May 04, 2012 (137)
15 ILLUMINA ss536502768 Sep 08, 2015 (146)
16 SSMP ss647695878 Apr 25, 2013 (138)
17 ILLUMINA ss779531686 Sep 08, 2015 (146)
18 ILLUMINA ss782605803 Sep 08, 2015 (146)
19 ILLUMINA ss835002254 Sep 08, 2015 (146)
20 EVA-GONL ss974999649 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1067771100 Aug 21, 2014 (142)
22 1000GENOMES ss1290246429 Aug 21, 2014 (142)
23 HAMMER_LAB ss1397242301 Sep 08, 2015 (146)
24 EVA_GENOME_DK ss1573970097 Apr 01, 2015 (144)
25 EVA_DECODE ss1584359244 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1599836288 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1642830321 Apr 01, 2015 (144)
28 EVA_SVP ss1712321666 Apr 01, 2015 (144)
29 WEILL_CORNELL_DGM ss1918211820 Feb 12, 2016 (147)
30 GENOMED ss1966715017 Jul 19, 2016 (147)
31 JJLAB ss2019617433 Sep 14, 2016 (149)
32 USC_VALOUEV ss2147626215 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2161159072 Dec 20, 2016 (150)
34 SYSTEMSBIOZJU ss2624325058 Nov 08, 2017 (151)
35 ILLUMINA ss2632496564 Nov 08, 2017 (151)
36 GRF ss2697532437 Nov 08, 2017 (151)
37 GNOMAD ss2753285067 Nov 08, 2017 (151)
38 SWEGEN ss2986554172 Nov 08, 2017 (151)
39 BIOINF_KMB_FNS_UNIBA ss3023574029 Nov 08, 2017 (151)
40 CSHL ss3343389200 Nov 08, 2017 (151)
41 ILLUMINA ss3626060882 Oct 11, 2018 (152)
42 ILLUMINA ss3630533738 Oct 11, 2018 (152)
43 ILLUMINA ss3637746575 Oct 11, 2018 (152)
44 ILLUMINA ss3642759649 Oct 11, 2018 (152)
45 OMUKHERJEE_ADBS ss3646227983 Oct 11, 2018 (152)
46 EGCUT_WGS ss3654617382 Jul 12, 2019 (153)
47 EVA_DECODE ss3686453165 Jul 12, 2019 (153)
48 ACPOP ss3726912571 Jul 12, 2019 (153)
49 EVA ss3746004257 Jul 12, 2019 (153)
50 KHV_HUMAN_GENOMES ss3799022374 Jul 12, 2019 (153)
51 EVA ss3836436420 Apr 25, 2020 (154)
52 EVA ss3841841526 Apr 25, 2020 (154)
53 SGDP_PRJ ss3848519942 Apr 25, 2020 (154)
54 KRGDB ss3893459209 Apr 25, 2020 (154)
55 TOPMED ss4443982242 Apr 25, 2021 (155)
56 TOMMO_GENOMICS ss5143186395 Apr 25, 2021 (155)
57 1000G_HIGH_COVERAGE ss5241700363 Oct 13, 2022 (156)
58 EVA ss5314604504 Oct 13, 2022 (156)
59 HUGCELL_USP ss5442827819 Oct 13, 2022 (156)
60 EVA ss5505803675 Oct 13, 2022 (156)
61 1000G_HIGH_COVERAGE ss5513697888 Oct 13, 2022 (156)
62 SANFORD_IMAGENETICS ss5625216146 Oct 13, 2022 (156)
63 TOMMO_GENOMICS ss5667712585 Oct 13, 2022 (156)
64 YY_MCH ss5800457037 Oct 13, 2022 (156)
65 EVA ss5831743111 Oct 13, 2022 (156)
66 EVA ss5848843092 Oct 13, 2022 (156)
67 EVA ss5907609135 Oct 13, 2022 (156)
68 EVA ss5937033465 Oct 13, 2022 (156)
69 1000Genomes NC_000001.10 - 31461301 Oct 11, 2018 (152)
70 1000Genomes_30x NC_000001.11 - 30988454 Oct 13, 2022 (156)
71 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 31461301 Oct 11, 2018 (152)
72 Chileans NC_000001.10 - 31461301 Apr 25, 2020 (154)
73 Genome-wide autozygosity in Daghestan NC_000001.9 - 31233888 Apr 25, 2020 (154)
74 Genetic variation in the Estonian population NC_000001.10 - 31461301 Oct 11, 2018 (152)
75 The Danish reference pan genome NC_000001.10 - 31461301 Apr 25, 2020 (154)
76 gnomAD - Genomes NC_000001.11 - 30988454 Apr 25, 2021 (155)
77 Genome of the Netherlands Release 5 NC_000001.10 - 31461301 Apr 25, 2020 (154)
78 HapMap NC_000001.11 - 30988454 Apr 25, 2020 (154)
79 KOREAN population from KRGDB NC_000001.10 - 31461301 Apr 25, 2020 (154)
80 Northern Sweden NC_000001.10 - 31461301 Jul 12, 2019 (153)
81 Qatari NC_000001.10 - 31461301 Apr 25, 2020 (154)
82 SGDP_PRJ NC_000001.10 - 31461301 Apr 25, 2020 (154)
83 Siberian NC_000001.10 - 31461301 Apr 25, 2020 (154)
84 8.3KJPN NC_000001.10 - 31461301 Apr 25, 2021 (155)
85 14KJPN NC_000001.11 - 30988454 Oct 13, 2022 (156)
86 TopMed NC_000001.11 - 30988454 Apr 25, 2021 (155)
87 UK 10K study - Twins NC_000001.10 - 31461301 Oct 11, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000001.10 - 31461301 Jul 12, 2019 (153)
89 ALFA NC_000001.11 - 30988454 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1725375566 NC_000001.11:30988453:C:A NC_000001.11:30988453:C:A (self)
636603, ss3893459209 NC_000001.10:31461300:C:G NC_000001.11:30988453:C:G (self)
3763, ss87336622, ss108098129, ss275771231, ss482314641, ss1397242301, ss1584359244, ss1712321666, ss3642759649 NC_000001.9:31233887:C:T NC_000001.11:30988453:C:T (self)
941830, 504449, 4873, 355630, 1444630, 217089, 636603, 197436, 253750, 536922, 142569, 1155702, 504449, 104260, ss230480236, ss238184270, ss484319214, ss536502768, ss647695878, ss779531686, ss782605803, ss835002254, ss974999649, ss1067771100, ss1290246429, ss1573970097, ss1599836288, ss1642830321, ss1918211820, ss1966715017, ss2019617433, ss2147626215, ss2624325058, ss2632496564, ss2697532437, ss2753285067, ss2986554172, ss3343389200, ss3626060882, ss3630533738, ss3637746575, ss3646227983, ss3654617382, ss3726912571, ss3746004257, ss3836436420, ss3848519942, ss3893459209, ss5143186395, ss5314604504, ss5505803675, ss5625216146, ss5831743111, ss5937033465 NC_000001.10:31461300:C:T NC_000001.11:30988453:C:T (self)
1223823, 6617603, 39550, 1549689, 7588577, 1725375566, ss2161159072, ss3023574029, ss3686453165, ss3799022374, ss3841841526, ss4443982242, ss5241700363, ss5442827819, ss5513697888, ss5667712585, ss5800457037, ss5848843092, ss5907609135 NC_000001.11:30988453:C:T NC_000001.11:30988453:C:T (self)
ss4923756, ss75170227, ss76674667, ss102731683, ss119457981, ss137870469, ss173616021 NT_032977.9:1433218:C:T NC_000001.11:30988453: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 rs3737757

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