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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.

rs10756607

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:14735612 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.141441 (37438/264690, TOPMED)
C=0.181463 (25762/141968, ALFA)
C=0.143636 (20130/140146, GnomAD) (+ 17 more)
C=0.24482 (6918/28258, 14KJPN)
C=0.24618 (4126/16760, 8.3KJPN)
C=0.1299 (832/6404, 1000G_30x)
C=0.1336 (669/5008, 1000G)
C=0.2143 (960/4480, Estonian)
C=0.1824 (703/3854, ALSPAC)
C=0.2017 (748/3708, TWINSUK)
C=0.2314 (678/2930, KOREAN)
C=0.2445 (448/1832, Korea1K)
C=0.179 (179/998, GoNL)
C=0.180 (108/600, NorthernSweden)
C=0.107 (35/328, HapMap)
C=0.139 (30/216, Qatari)
C=0.206 (44/214, Vietnamese)
T=0.450 (72/160, SGDP_PRJ)
C=0.25 (10/40, GENOME_DK)
T=0.46 (12/26, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
None
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 141968 T=0.818537 A=0.000000, C=0.181463
European Sub 122524 T=0.812021 A=0.000000, C=0.187979
African Sub 5492 T=0.9694 A=0.0000, C=0.0306
African Others Sub 208 T=0.995 A=0.000, C=0.005
African American Sub 5284 T=0.9684 A=0.0000, C=0.0316
Asian Sub 622 T=0.770 A=0.000, C=0.230
East Asian Sub 490 T=0.771 A=0.000, C=0.229
Other Asian Sub 132 T=0.765 A=0.000, C=0.235
Latin American 1 Sub 738 T=0.839 A=0.000, C=0.161
Latin American 2 Sub 6276 T=0.7983 A=0.0000, C=0.2017
South Asian Sub 184 T=0.891 A=0.000, C=0.109
Other Sub 6132 T=0.8346 A=0.0000, C=0.1654


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 T=0.858559 C=0.141441
Allele Frequency Aggregator Total Global 141968 T=0.818537 A=0.000000, C=0.181463
Allele Frequency Aggregator European Sub 122524 T=0.812021 A=0.000000, C=0.187979
Allele Frequency Aggregator Latin American 2 Sub 6276 T=0.7983 A=0.0000, C=0.2017
Allele Frequency Aggregator Other Sub 6132 T=0.8346 A=0.0000, C=0.1654
Allele Frequency Aggregator African Sub 5492 T=0.9694 A=0.0000, C=0.0306
Allele Frequency Aggregator Latin American 1 Sub 738 T=0.839 A=0.000, C=0.161
Allele Frequency Aggregator Asian Sub 622 T=0.770 A=0.000, C=0.230
Allele Frequency Aggregator South Asian Sub 184 T=0.891 A=0.000, C=0.109
gnomAD - Genomes Global Study-wide 140146 T=0.856364 C=0.143636
gnomAD - Genomes European Sub 75862 T=0.80596 C=0.19404
gnomAD - Genomes African Sub 42032 T=0.96422 C=0.03578
gnomAD - Genomes American Sub 13650 T=0.81158 C=0.18842
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.8700 C=0.1300
gnomAD - Genomes East Asian Sub 3126 T=0.8263 C=0.1737
gnomAD - Genomes Other Sub 2154 T=0.8333 C=0.1667
14KJPN JAPANESE Study-wide 28258 T=0.75518 C=0.24482
8.3KJPN JAPANESE Study-wide 16760 T=0.75382 C=0.24618
1000Genomes_30x Global Study-wide 6404 T=0.8701 C=0.1299
1000Genomes_30x African Sub 1786 T=0.9933 C=0.0067
1000Genomes_30x Europe Sub 1266 T=0.8191 C=0.1809
1000Genomes_30x South Asian Sub 1202 T=0.8361 C=0.1639
1000Genomes_30x East Asian Sub 1170 T=0.8376 C=0.1624
1000Genomes_30x American Sub 980 T=0.792 C=0.208
1000Genomes Global Study-wide 5008 T=0.8664 C=0.1336
1000Genomes African Sub 1322 T=0.9924 C=0.0076
1000Genomes East Asian Sub 1008 T=0.8304 C=0.1696
1000Genomes Europe Sub 1006 T=0.8171 C=0.1829
1000Genomes South Asian Sub 978 T=0.843 C=0.157
1000Genomes American Sub 694 T=0.784 C=0.216
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7857 C=0.2143
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8176 C=0.1824
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7983 C=0.2017
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7686 C=0.2314
Korean Genome Project KOREAN Study-wide 1832 T=0.7555 C=0.2445
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.821 C=0.179
Northern Sweden ACPOP Study-wide 600 T=0.820 C=0.180
HapMap Global Study-wide 328 T=0.893 C=0.107
HapMap American Sub 120 T=0.850 C=0.150
HapMap African Sub 118 T=1.000 C=0.000
HapMap Asian Sub 90 T=0.81 C=0.19
Qatari Global Study-wide 216 T=0.861 C=0.139
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.794 C=0.206
SGDP_PRJ Global Study-wide 160 T=0.450 C=0.550
The Danish reference pan genome Danish Study-wide 40 T=0.75 C=0.25
Siberian Global Study-wide 26 T=0.46 C=0.54
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 9 NC_000009.12:g.14735612T>A
GRCh38.p14 chr 9 NC_000009.12:g.14735612T>C
GRCh37.p13 chr 9 NC_000009.11:g.14735610T>A
GRCh37.p13 chr 9 NC_000009.11:g.14735610T>C
FREM1 RefSeqGene NG_017005.2:g.179625A>T
FREM1 RefSeqGene NG_017005.2:g.179625A>G
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: C (allele ID: 318196 )
ClinVar Accession Disease Names Clinical Significance
RCV000382431.5 Oculotrichoanal syndrome Benign
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 T= A C
GRCh38.p14 chr 9 NC_000009.12:g.14735612= NC_000009.12:g.14735612T>A NC_000009.12:g.14735612T>C
GRCh37.p13 chr 9 NC_000009.11:g.14735610= NC_000009.11:g.14735610T>A NC_000009.11:g.14735610T>C
FREM1 RefSeqGene NG_017005.2:g.179625= NG_017005.2:g.179625A>T NG_017005.2:g.179625A>G
FREM1 transcript variant 1 NM_144966.5:c.*1784= NM_144966.5:c.*1784A>T NM_144966.5:c.*1784A>G
FREM1 transcript variant 1 NM_144966.6:c.*1784= NM_144966.6:c.*1784A>T NM_144966.6:c.*1784A>G
FREM1 transcript variant 2 NM_001177704.2:c.*1784= NM_001177704.2:c.*1784A>T NM_001177704.2:c.*1784A>G
FREM1 transcript variant 9 NR_163239.1:n.9132= NR_163239.1:n.9132A>T NR_163239.1:n.9132A>G
FREM1 transcript variant 13 NM_001379081.1:c.*1784= NM_001379081.1:c.*1784A>T NM_001379081.1:c.*1784A>G
FREM1 transcript variant 8 NR_163238.1:n.7714= NR_163238.1:n.7714A>T NR_163238.1:n.7714A>G
FREM1 transcript variant 3 NM_001370058.1:c.*1935= NM_001370058.1:c.*1935A>T NM_001370058.1:c.*1935A>G
FREM1 transcript variant 5 NM_001370061.1:c.*1784= NM_001370061.1:c.*1784A>T NM_001370061.1:c.*1784A>G
FREM1 transcript variant 12 NR_163242.1:n.4146= NR_163242.1:n.4146A>T NR_163242.1:n.4146A>G
FREM1 transcript variant 2 NM_001177704.1:c.*1784= NM_001177704.1:c.*1784A>T NM_001177704.1:c.*1784A>G
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#.

88 SubSNP, 20 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15844705 Feb 27, 2004 (120)
2 SC_SNP ss18605176 Feb 27, 2004 (120)
3 SC_SNP ss18855484 Feb 27, 2004 (120)
4 SC_SNP ss19056718 Feb 27, 2004 (120)
5 PERLEGEN ss69283843 May 17, 2007 (127)
6 BCMHGSC_JDW ss94017175 Mar 25, 2008 (129)
7 1000GENOMES ss108623365 Jan 23, 2009 (130)
8 ENSEMBL ss143969853 Dec 01, 2009 (131)
9 GMI ss157228219 Dec 01, 2009 (131)
10 ILLUMINA ss159915815 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss163845273 Jul 04, 2010 (132)
12 1000GENOMES ss234740840 Jul 15, 2010 (132)
13 1000GENOMES ss241531146 Jul 15, 2010 (132)
14 GMI ss280121537 May 04, 2012 (137)
15 PJP ss294403082 May 09, 2011 (134)
16 ILLUMINA ss479333629 May 04, 2012 (137)
17 ILLUMINA ss479336676 May 04, 2012 (137)
18 ILLUMINA ss479729194 Sep 08, 2015 (146)
19 ILLUMINA ss484467015 May 04, 2012 (137)
20 ILLUMINA ss536629316 Sep 08, 2015 (146)
21 SSMP ss655690246 Apr 25, 2013 (138)
22 ILLUMINA ss779027441 Sep 08, 2015 (146)
23 ILLUMINA ss782680073 Sep 08, 2015 (146)
24 ILLUMINA ss783648586 Sep 08, 2015 (146)
25 ILLUMINA ss831930847 Sep 08, 2015 (146)
26 ILLUMINA ss834490112 Sep 08, 2015 (146)
27 EVA-GONL ss986348260 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1076141567 Aug 21, 2014 (142)
29 1000GENOMES ss1333039050 Aug 21, 2014 (142)
30 EVA_GENOME_DK ss1583002342 Apr 01, 2015 (144)
31 EVA_DECODE ss1595979278 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1622324473 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1665318506 Apr 01, 2015 (144)
34 ILLUMINA ss1752768027 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1929630086 Feb 12, 2016 (147)
36 GENOMED ss1971163639 Jul 19, 2016 (147)
37 JJLAB ss2025526721 Sep 14, 2016 (149)
38 USC_VALOUEV ss2153753704 Dec 20, 2016 (150)
39 HUMAN_LONGEVITY ss2309689451 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2627238065 Nov 08, 2017 (151)
41 ILLUMINA ss2634841968 Nov 08, 2017 (151)
42 GRF ss2709553087 Nov 08, 2017 (151)
43 GNOMAD ss2875811816 Nov 08, 2017 (151)
44 SWEGEN ss3004438838 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3026552511 Nov 08, 2017 (151)
46 CSHL ss3348541003 Nov 08, 2017 (151)
47 ILLUMINA ss3630221781 Oct 12, 2018 (152)
48 ILLUMINA ss3632735734 Oct 12, 2018 (152)
49 ILLUMINA ss3633526735 Oct 12, 2018 (152)
50 ILLUMINA ss3634254701 Oct 12, 2018 (152)
51 ILLUMINA ss3635204581 Oct 12, 2018 (152)
52 ILLUMINA ss3635932881 Oct 12, 2018 (152)
53 ILLUMINA ss3636948363 Oct 12, 2018 (152)
54 ILLUMINA ss3637686169 Oct 12, 2018 (152)
55 ILLUMINA ss3640911872 Oct 12, 2018 (152)
56 EGCUT_WGS ss3672181133 Jul 13, 2019 (153)
57 EVA_DECODE ss3723542026 Jul 13, 2019 (153)
58 ACPOP ss3736339909 Jul 13, 2019 (153)
59 ILLUMINA ss3745504533 Jul 13, 2019 (153)
60 EVA ss3768958135 Jul 13, 2019 (153)
61 ILLUMINA ss3772996610 Jul 13, 2019 (153)
62 PACBIO ss3786357218 Jul 13, 2019 (153)
63 PACBIO ss3791581960 Jul 13, 2019 (153)
64 PACBIO ss3796463616 Jul 13, 2019 (153)
65 KHV_HUMAN_GENOMES ss3812117144 Jul 13, 2019 (153)
66 EVA ss3831555182 Apr 26, 2020 (154)
67 EVA ss3839292776 Apr 26, 2020 (154)
68 EVA ss3844755068 Apr 26, 2020 (154)
69 SGDP_PRJ ss3871591490 Apr 26, 2020 (154)
70 KRGDB ss3919240821 Apr 26, 2020 (154)
71 KOGIC ss3965362060 Apr 26, 2020 (154)
72 EVA ss4017428372 Apr 26, 2021 (155)
73 TOPMED ss4813801482 Apr 26, 2021 (155)
74 TOMMO_GENOMICS ss5192234549 Apr 26, 2021 (155)
75 1000G_HIGH_COVERAGE ss5279913517 Oct 16, 2022 (156)
76 EVA ss5315387578 Oct 16, 2022 (156)
77 EVA ss5386250533 Oct 16, 2022 (156)
78 HUGCELL_USP ss5476183544 Oct 16, 2022 (156)
79 EVA ss5509642415 Oct 16, 2022 (156)
80 1000G_HIGH_COVERAGE ss5571745177 Oct 16, 2022 (156)
81 SANFORD_IMAGENETICS ss5646974916 Oct 16, 2022 (156)
82 TOMMO_GENOMICS ss5735325090 Oct 16, 2022 (156)
83 EVA ss5799778421 Oct 16, 2022 (156)
84 YY_MCH ss5810373602 Oct 16, 2022 (156)
85 EVA ss5828897607 Oct 16, 2022 (156)
86 EVA ss5856686099 Oct 16, 2022 (156)
87 EVA ss5915661880 Oct 16, 2022 (156)
88 EVA ss5976248854 Oct 16, 2022 (156)
89 1000Genomes NC_000009.11 - 14735610 Oct 12, 2018 (152)
90 1000Genomes_30x NC_000009.12 - 14735612 Oct 16, 2022 (156)
91 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 14735610 Oct 12, 2018 (152)
92 Genetic variation in the Estonian population NC_000009.11 - 14735610 Oct 12, 2018 (152)
93 The Danish reference pan genome NC_000009.11 - 14735610 Apr 26, 2020 (154)
94 gnomAD - Genomes NC_000009.12 - 14735612 Apr 26, 2021 (155)
95 Genome of the Netherlands Release 5 NC_000009.11 - 14735610 Apr 26, 2020 (154)
96 HapMap NC_000009.12 - 14735612 Apr 26, 2020 (154)
97 KOREAN population from KRGDB NC_000009.11 - 14735610 Apr 26, 2020 (154)
98 Korean Genome Project NC_000009.12 - 14735612 Apr 26, 2020 (154)
99 Northern Sweden NC_000009.11 - 14735610 Jul 13, 2019 (153)
100 Qatari NC_000009.11 - 14735610 Apr 26, 2020 (154)
101 SGDP_PRJ NC_000009.11 - 14735610 Apr 26, 2020 (154)
102 Siberian NC_000009.11 - 14735610 Apr 26, 2020 (154)
103 8.3KJPN NC_000009.11 - 14735610 Apr 26, 2021 (155)
104 14KJPN NC_000009.12 - 14735612 Oct 16, 2022 (156)
105 TopMed NC_000009.12 - 14735612 Apr 26, 2021 (155)
106 UK 10K study - Twins NC_000009.11 - 14735610 Oct 12, 2018 (152)
107 A Vietnamese Genetic Variation Database NC_000009.11 - 14735610 Jul 13, 2019 (153)
108 ALFA NC_000009.12 - 14735612 Apr 26, 2021 (155)
109 ClinVar RCV000382431.5 Oct 16, 2022 (156)
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
13822243499 NC_000009.12:14735611:T:A NC_000009.12:14735611:T:A (self)
ss94017175, ss108623365, ss163845273, ss280121537, ss294403082, ss479333629, ss1595979278 NC_000009.10:14725609:T:C NC_000009.12:14735611:T:C (self)
45271080, 25187785, 17919381, 9167279, 11235273, 26418215, 9624774, 11672016, 23608470, 6270058, 50203856, 25187785, 5594516, ss234740840, ss241531146, ss479336676, ss479729194, ss484467015, ss536629316, ss655690246, ss779027441, ss782680073, ss783648586, ss831930847, ss834490112, ss986348260, ss1076141567, ss1333039050, ss1583002342, ss1622324473, ss1665318506, ss1752768027, ss1929630086, ss1971163639, ss2025526721, ss2153753704, ss2627238065, ss2634841968, ss2709553087, ss2875811816, ss3004438838, ss3348541003, ss3630221781, ss3632735734, ss3633526735, ss3634254701, ss3635204581, ss3635932881, ss3636948363, ss3637686169, ss3640911872, ss3672181133, ss3736339909, ss3745504533, ss3768958135, ss3772996610, ss3786357218, ss3791581960, ss3796463616, ss3831555182, ss3839292776, ss3871591490, ss3919240821, ss4017428372, ss5192234549, ss5315387578, ss5386250533, ss5509642415, ss5646974916, ss5799778421, ss5828897607, ss5976248854 NC_000009.11:14735609:T:C NC_000009.12:14735611:T:C (self)
RCV000382431.5, 59271112, 319101843, 3786745, 21740061, 69162194, 651179043, 13822243499, ss2309689451, ss3026552511, ss3723542026, ss3812117144, ss3844755068, ss3965362060, ss4813801482, ss5279913517, ss5476183544, ss5571745177, ss5735325090, ss5810373602, ss5856686099, ss5915661880 NC_000009.12:14735611:T:C NC_000009.12:14735611:T:C (self)
ss15844705, ss18605176, ss18855484, ss19056718 NT_008413.16:14725609:T:C NC_000009.12:14735611:T:C (self)
ss69283843, ss143969853, ss157228219, ss159915815 NT_008413.18:14725609:T:C NC_000009.12:14735611:T:C (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 rs10756607

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