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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.

rs1036207

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr5:142119476 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.320900 (84939/264690, TOPMED)
A=0.324784 (45501/140096, GnomAD)
A=0.35828 (6401/17866, ALFA) (+ 14 more)
A=0.37267 (6246/16760, 8.3KJPN)
A=0.3355 (1680/5008, 1000G)
A=0.3723 (1668/4480, Estonian)
A=0.3879 (1495/3854, ALSPAC)
A=0.3821 (1417/3708, TWINSUK)
A=0.3218 (943/2930, KOREAN)
A=0.3210 (588/1832, Korea1K)
A=0.359 (358/998, GoNL)
A=0.355 (213/600, NorthernSweden)
A=0.259 (127/490, SGDP_PRJ)
A=0.315 (68/216, Qatari)
A=0.387 (82/212, Vietnamese)
A=0.33 (17/52, Siberian)
A=0.35 (14/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NDFIP1 : Intron Variant
Publications
1 citation
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 5 NC_000005.10:g.142119476A>C
GRCh38.p13 chr 5 NC_000005.10:g.142119476A>G
GRCh38.p13 chr 5 NC_000005.10:g.142119476A>T
GRCh37.p13 chr 5 NC_000005.9:g.141499041A>C
GRCh37.p13 chr 5 NC_000005.9:g.141499041A>G
GRCh37.p13 chr 5 NC_000005.9:g.141499041A>T
Gene: NDFIP1, Nedd4 family interacting protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NDFIP1 transcript NM_030571.4:c.63+10439A>C 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 17866 A=0.35828 G=0.64172, T=0.00000
European Sub 13746 A=0.37997 G=0.62003, T=0.00000
African Sub 2464 A=0.2528 G=0.7472, T=0.0000
African Others Sub 92 A=0.18 G=0.82, T=0.00
African American Sub 2372 A=0.2555 G=0.7445, T=0.0000
Asian Sub 112 A=0.420 G=0.580, T=0.000
East Asian Sub 86 A=0.44 G=0.56, T=0.00
Other Asian Sub 26 A=0.35 G=0.65, T=0.00
Latin American 1 Sub 146 A=0.336 G=0.664, T=0.000
Latin American 2 Sub 610 A=0.316 G=0.684, T=0.000
South Asian Sub 98 A=0.48 G=0.52, T=0.00
Other Sub 690 A=0.317 G=0.683, T=0.000


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 A=0.320900 G=0.679100
gnomAD - Genomes Global Study-wide 140096 A=0.324784 G=0.675216
gnomAD - Genomes European Sub 75864 A=0.37285 G=0.62715
gnomAD - Genomes African Sub 41994 A=0.23872 G=0.76128
gnomAD - Genomes American Sub 13642 A=0.32312 G=0.67688
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.3024 G=0.6976
gnomAD - Genomes East Asian Sub 3126 A=0.3554 G=0.6446
gnomAD - Genomes Other Sub 2150 A=0.3102 G=0.6898
Allele Frequency Aggregator Total Global 17866 A=0.35828 G=0.64172, T=0.00000
Allele Frequency Aggregator European Sub 13746 A=0.37997 G=0.62003, T=0.00000
Allele Frequency Aggregator African Sub 2464 A=0.2528 G=0.7472, T=0.0000
Allele Frequency Aggregator Other Sub 690 A=0.317 G=0.683, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.316 G=0.684, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.336 G=0.664, T=0.000
Allele Frequency Aggregator Asian Sub 112 A=0.420 G=0.580, T=0.000
Allele Frequency Aggregator South Asian Sub 98 A=0.48 G=0.52, T=0.00
8.3KJPN JAPANESE Study-wide 16760 A=0.37267 G=0.62733
1000Genomes Global Study-wide 5008 A=0.3355 G=0.6645
1000Genomes African Sub 1322 A=0.1974 G=0.8026
1000Genomes East Asian Sub 1008 A=0.3671 G=0.6329
1000Genomes Europe Sub 1006 A=0.3797 G=0.6203
1000Genomes South Asian Sub 978 A=0.464 G=0.536
1000Genomes American Sub 694 A=0.307 G=0.693
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3723 G=0.6277
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3879 G=0.6121
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3821 G=0.6179
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3218 C=0.0000, G=0.6782, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.3210 G=0.6790
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.359 G=0.641
Northern Sweden ACPOP Study-wide 600 A=0.355 G=0.645
SGDP_PRJ Global Study-wide 490 A=0.259 G=0.741
Qatari Global Study-wide 216 A=0.315 G=0.685
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.387 G=0.613
Siberian Global Study-wide 52 A=0.33 G=0.67
The Danish reference pan genome Danish Study-wide 40 A=0.35 G=0.65
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 A= C G T
GRCh38.p13 chr 5 NC_000005.10:g.142119476= NC_000005.10:g.142119476A>C NC_000005.10:g.142119476A>G NC_000005.10:g.142119476A>T
GRCh37.p13 chr 5 NC_000005.9:g.141499041= NC_000005.9:g.141499041A>C NC_000005.9:g.141499041A>G NC_000005.9:g.141499041A>T
NDFIP1 transcript NM_030571.3:c.63+10439= NM_030571.3:c.63+10439A>C NM_030571.3:c.63+10439A>G NM_030571.3:c.63+10439A>T
NDFIP1 transcript NM_030571.4:c.63+10439= NM_030571.4:c.63+10439A>C NM_030571.4:c.63+10439A>G NM_030571.4:c.63+10439A>T
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#.

76 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1502246 Oct 05, 2000 (86)
2 SC_JCM ss5801589 Feb 20, 2003 (111)
3 WI_SSAHASNP ss11752358 Jul 11, 2003 (116)
4 SC_SNP ss13433584 Dec 05, 2003 (119)
5 SC_SNP ss14852261 Dec 05, 2003 (119)
6 CSHL-HAPMAP ss17086698 Feb 27, 2004 (120)
7 SSAHASNP ss22300907 Apr 05, 2004 (121)
8 ABI ss42416148 Mar 14, 2006 (126)
9 HGSV ss83746284 Dec 15, 2007 (130)
10 HGSV ss85418757 Dec 15, 2007 (130)
11 BCMHGSC_JDW ss93272307 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss98653162 Feb 06, 2009 (130)
13 BGI ss105955972 Feb 06, 2009 (130)
14 1000GENOMES ss109467140 Jan 24, 2009 (130)
15 1000GENOMES ss113360024 Jan 25, 2009 (130)
16 ILLUMINA-UK ss116835857 Feb 14, 2009 (130)
17 ENSEMBL ss139446185 Dec 01, 2009 (131)
18 ENSEMBL ss143490670 Dec 01, 2009 (131)
19 GMI ss156103301 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss162723822 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss165934434 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss167155125 Jul 04, 2010 (132)
23 BUSHMAN ss200949242 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss206748611 Jul 04, 2010 (132)
25 1000GENOMES ss222001855 Jul 14, 2010 (132)
26 1000GENOMES ss233174659 Jul 14, 2010 (132)
27 1000GENOMES ss240290214 Jul 15, 2010 (132)
28 BL ss253851145 May 09, 2011 (134)
29 GMI ss278505694 May 04, 2012 (137)
30 GMI ss285274219 Apr 25, 2013 (138)
31 PJP ss293473257 May 09, 2011 (134)
32 TISHKOFF ss558754981 Apr 25, 2013 (138)
33 SSMP ss652655980 Apr 25, 2013 (138)
34 EVA-GONL ss982196496 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1073092616 Aug 21, 2014 (142)
36 1000GENOMES ss1317503507 Aug 21, 2014 (142)
37 DDI ss1430522472 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1581377475 Apr 01, 2015 (144)
39 EVA_DECODE ss1591726088 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1614165172 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1657159205 Apr 01, 2015 (144)
42 HAMMER_LAB ss1804111033 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1925451096 Feb 12, 2016 (147)
44 GENOMED ss1970222865 Jul 19, 2016 (147)
45 JJLAB ss2023331263 Sep 14, 2016 (149)
46 ILLUMINA ss2094944368 Dec 20, 2016 (150)
47 ILLUMINA ss2095163879 Dec 20, 2016 (150)
48 USC_VALOUEV ss2151489621 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2278758769 Dec 20, 2016 (150)
50 TOPMED ss2447073638 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2626153179 Nov 08, 2017 (151)
52 GRF ss2707055020 Nov 08, 2017 (151)
53 GNOMAD ss2831609150 Nov 08, 2017 (151)
54 SWEGEN ss2997907697 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3025447982 Nov 08, 2017 (151)
56 CSHL ss3346658091 Nov 08, 2017 (151)
57 TOPMED ss3480592865 Nov 08, 2017 (151)
58 TOPMED ss3480592866 Nov 08, 2017 (151)
59 URBANLAB ss3648183922 Oct 12, 2018 (152)
60 ILLUMINA ss3653039612 Oct 12, 2018 (152)
61 EGCUT_WGS ss3665823563 Jul 13, 2019 (153)
62 EVA_DECODE ss3715839491 Jul 13, 2019 (153)
63 ACPOP ss3732876543 Jul 13, 2019 (153)
64 EVA ss3764148123 Jul 13, 2019 (153)
65 PACBIO ss3785268530 Jul 13, 2019 (153)
66 PACBIO ss3790648481 Jul 13, 2019 (153)
67 PACBIO ss3795525474 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3807318080 Jul 13, 2019 (153)
69 EVA ss3829537629 Apr 26, 2020 (154)
70 EVA ss3838243387 Apr 26, 2020 (154)
71 EVA ss3843686188 Apr 26, 2020 (154)
72 SGDP_PRJ ss3863121020 Apr 26, 2020 (154)
73 KRGDB ss3909784610 Apr 26, 2020 (154)
74 KOGIC ss3957784540 Apr 26, 2020 (154)
75 TOPMED ss4681263335 Apr 26, 2021 (155)
76 TOMMO_GENOMICS ss5174469856 Apr 26, 2021 (155)
77 1000Genomes NC_000005.9 - 141499041 Oct 12, 2018 (152)
78 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 141499041 Oct 12, 2018 (152)
79 Genetic variation in the Estonian population NC_000005.9 - 141499041 Oct 12, 2018 (152)
80 The Danish reference pan genome NC_000005.9 - 141499041 Apr 26, 2020 (154)
81 gnomAD - Genomes NC_000005.10 - 142119476 Apr 26, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000005.9 - 141499041 Apr 26, 2020 (154)
83 KOREAN population from KRGDB NC_000005.9 - 141499041 Apr 26, 2020 (154)
84 Korean Genome Project NC_000005.10 - 142119476 Apr 26, 2020 (154)
85 Northern Sweden NC_000005.9 - 141499041 Jul 13, 2019 (153)
86 Qatari NC_000005.9 - 141499041 Apr 26, 2020 (154)
87 SGDP_PRJ NC_000005.9 - 141499041 Apr 26, 2020 (154)
88 Siberian NC_000005.9 - 141499041 Apr 26, 2020 (154)
89 8.3KJPN NC_000005.9 - 141499041 Apr 26, 2021 (155)
90 TopMed NC_000005.10 - 142119476 Apr 26, 2021 (155)
91 UK 10K study - Twins NC_000005.9 - 141499041 Oct 12, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000005.9 - 141499041 Jul 13, 2019 (153)
93 ALFA NC_000005.10 - 142119476 Apr 26, 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)
rs60053126 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
16962004, ss3909784610 NC_000005.9:141499040:A:C NC_000005.10:142119475:A:C (self)
ss83746284, ss85418757, ss93272307, ss109467140, ss113360024, ss116835857, ss162723822, ss165934434, ss167155125, ss200949242, ss206748611, ss253851145, ss278505694, ss285274219, ss293473257, ss1591726088, ss2094944368 NC_000005.8:141479224:A:G NC_000005.10:142119475:A:G (self)
29192230, 16239634, 11561811, 7542414, 7213302, 16962004, 6161408, 7493026, 15138000, 4005975, 32439163, 16239634, 3598488, ss222001855, ss233174659, ss240290214, ss558754981, ss652655980, ss982196496, ss1073092616, ss1317503507, ss1430522472, ss1581377475, ss1614165172, ss1657159205, ss1804111033, ss1925451096, ss1970222865, ss2023331263, ss2095163879, ss2151489621, ss2447073638, ss2626153179, ss2707055020, ss2831609150, ss2997907697, ss3346658091, ss3653039612, ss3665823563, ss3732876543, ss3764148123, ss3785268530, ss3790648481, ss3795525474, ss3829537629, ss3838243387, ss3863121020, ss3909784610, ss5174469856 NC_000005.9:141499040:A:G NC_000005.10:142119475:A:G (self)
206515074, 14162541, 324310986, 518640892, 1453568405, ss2278758769, ss3025447982, ss3480592865, ss3648183922, ss3715839491, ss3807318080, ss3843686188, ss3957784540, ss4681263335 NC_000005.10:142119475:A:G NC_000005.10:142119475:A:G (self)
ss11752358, ss13433584 NT_029289.9:2661968:A:G NC_000005.10:142119475:A:G (self)
ss14852261, ss17086698, ss22300907 NT_029289.10:2661967:A:G NC_000005.10:142119475:A:G (self)
ss1502246, ss5801589, ss42416148, ss98653162, ss105955972, ss139446185, ss143490670, ss156103301 NT_029289.11:2661967:A:G NC_000005.10:142119475:A:G (self)
16962004, ss3909784610 NC_000005.9:141499040:A:T NC_000005.10:142119475:A:T (self)
1453568405, ss3480592866 NC_000005.10:142119475:A:T NC_000005.10:142119475:A:T (self)
Help

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

1 citation for rs1036207
PMID Title Author Year Journal
31482761 Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms. Shepard CJ et al. 2019 Physiological genomics
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.post596+ae089ad