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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.

rs1868071

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:30021957 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.348207 (92167/264690, TOPMED)
T=0.354871 (49689/140020, GnomAD)
T=0.37436 (8066/21546, ALFA) (+ 16 more)
T=0.10251 (1718/16760, 8.3KJPN)
T=0.2668 (1336/5008, 1000G)
T=0.4025 (1803/4480, Estonian)
T=0.4141 (1596/3854, ALSPAC)
T=0.4156 (1541/3708, TWINSUK)
T=0.1014 (297/2930, KOREAN)
T=0.1245 (228/1832, Korea1K)
T=0.406 (405/998, GoNL)
T=0.437 (262/600, NorthernSweden)
T=0.165 (85/514, SGDP_PRJ)
T=0.271 (89/328, HapMap)
T=0.398 (86/216, Qatari)
T=0.176 (37/210, Vietnamese)
C=0.44 (36/82, Ancient Sardinia)
T=0.24 (10/42, Siberian)
T=0.45 (18/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC101929418 : Intron Variant
Publications
0 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 2 NC_000002.12:g.30021957T>C
GRCh37.p13 chr 2 NC_000002.11:g.30244823T>C
Gene: LOC101929418, uncharacterized LOC101929418 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101929418 transcript variant X1 XR_001739368.1:n. N/A Intron Variant
LOC101929418 transcript variant X2 XR_001739369.1:n. N/A Intron Variant
LOC101929418 transcript variant X3 XR_001739370.1:n. N/A Intron Variant
LOC101929418 transcript variant X5 XR_001739372.1:n. N/A Intron Variant
LOC101929418 transcript variant X6 XR_001739373.1:n. N/A Intron Variant
LOC101929418 transcript variant X10 XR_001739377.1:n. N/A Intron Variant
LOC101929418 transcript variant X4 XR_001739371.2:n. N/A Genic Downstream Transcript Variant
LOC101929418 transcript variant X7 XR_001739374.1:n. N/A Genic Downstream Transcript Variant
LOC101929418 transcript variant X8 XR_001739375.1:n. N/A Genic Downstream Transcript Variant
LOC101929418 transcript variant X9 XR_001739376.1:n. N/A Genic Downstream Transcript Variant
LOC101929418 transcript variant X11 XR_001739378.1:n. N/A Genic Downstream Transcript Variant
LOC101929418 transcript variant X12 XR_001739379.1:n. N/A Genic Downstream Transcript Variant
LOC101929418 transcript variant X13 XR_939904.2:n. N/A Genic Downstream Transcript Variant
LOC101929418 transcript variant X14 XR_939905.2:n. N/A Genic Downstream Transcript Variant
LOC101929418 transcript variant X15 XR_939906.2:n. N/A Genic Downstream Transcript 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 21546 T=0.37436 C=0.62564
European Sub 14286 T=0.41439 C=0.58561
African Sub 5550 T=0.2870 C=0.7130
African Others Sub 198 T=0.227 C=0.773
African American Sub 5352 T=0.2892 C=0.7108
Asian Sub 112 T=0.232 C=0.768
East Asian Sub 86 T=0.22 C=0.78
Other Asian Sub 26 T=0.27 C=0.73
Latin American 1 Sub 146 T=0.425 C=0.575
Latin American 2 Sub 610 T=0.270 C=0.730
South Asian Sub 98 T=0.23 C=0.77
Other Sub 744 T=0.372 C=0.628


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=0.348207 C=0.651793
gnomAD - Genomes Global Study-wide 140020 T=0.354871 C=0.645129
gnomAD - Genomes European Sub 75822 T=0.40836 C=0.59164
gnomAD - Genomes African Sub 41950 T=0.27824 C=0.72176
gnomAD - Genomes American Sub 13652 T=0.32083 C=0.67917
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.4269 C=0.5731
gnomAD - Genomes East Asian Sub 3126 T=0.1542 C=0.8458
gnomAD - Genomes Other Sub 2148 T=0.3603 C=0.6397
Allele Frequency Aggregator Total Global 21546 T=0.37436 C=0.62564
Allele Frequency Aggregator European Sub 14286 T=0.41439 C=0.58561
Allele Frequency Aggregator African Sub 5550 T=0.2870 C=0.7130
Allele Frequency Aggregator Other Sub 744 T=0.372 C=0.628
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.270 C=0.730
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.425 C=0.575
Allele Frequency Aggregator Asian Sub 112 T=0.232 C=0.768
Allele Frequency Aggregator South Asian Sub 98 T=0.23 C=0.77
8.3KJPN JAPANESE Study-wide 16760 T=0.10251 C=0.89749
1000Genomes Global Study-wide 5008 T=0.2668 C=0.7332
1000Genomes African Sub 1322 T=0.2761 C=0.7239
1000Genomes East Asian Sub 1008 T=0.1825 C=0.8175
1000Genomes Europe Sub 1006 T=0.4155 C=0.5845
1000Genomes South Asian Sub 978 T=0.167 C=0.833
1000Genomes American Sub 694 T=0.297 C=0.703
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4025 C=0.5975
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4141 C=0.5859
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4156 C=0.5844
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.1014 C=0.8986
Korean Genome Project KOREAN Study-wide 1832 T=0.1245 C=0.8755
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.406 C=0.594
Northern Sweden ACPOP Study-wide 600 T=0.437 C=0.563
SGDP_PRJ Global Study-wide 514 T=0.165 C=0.835
HapMap Global Study-wide 328 T=0.271 C=0.729
HapMap African Sub 120 T=0.283 C=0.717
HapMap American Sub 120 T=0.383 C=0.617
HapMap Asian Sub 88 T=0.10 C=0.90
Qatari Global Study-wide 216 T=0.398 C=0.602
A Vietnamese Genetic Variation Database Global Study-wide 210 T=0.176 C=0.824
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 T=0.56 C=0.44
Siberian Global Study-wide 42 T=0.24 C=0.76
The Danish reference pan genome Danish Study-wide 40 T=0.45 C=0.55
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= C
GRCh38.p13 chr 2 NC_000002.12:g.30021957= NC_000002.12:g.30021957T>C
GRCh37.p13 chr 2 NC_000002.11:g.30244823= NC_000002.11:g.30244823T>C
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, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2743610 Jan 12, 2001 (92)
2 CSHL-HAPMAP ss19454293 Feb 27, 2004 (120)
3 SSAHASNP ss21660689 Apr 05, 2004 (121)
4 ILLUMINA ss65771831 Oct 16, 2006 (127)
5 CSHL-HAPMAP ss68366779 Jan 12, 2007 (127)
6 HGSV ss81222241 Dec 14, 2007 (130)
7 HGSV ss84410572 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss91103222 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss96384830 Feb 04, 2009 (130)
10 BGI ss106078517 Feb 04, 2009 (130)
11 1000GENOMES ss109366410 Jan 24, 2009 (130)
12 1000GENOMES ss110011756 Jan 24, 2009 (130)
13 ILLUMINA-UK ss117639537 Feb 14, 2009 (130)
14 ILLUMINA ss120244553 Dec 01, 2009 (131)
15 ENSEMBL ss135904219 Dec 01, 2009 (131)
16 ENSEMBL ss138413196 Dec 01, 2009 (131)
17 GMI ss156854363 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss163240767 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss164085724 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss166349161 Jul 04, 2010 (132)
21 BUSHMAN ss200215620 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss205769301 Jul 04, 2010 (132)
23 1000GENOMES ss219144474 Jul 14, 2010 (132)
24 1000GENOMES ss231093431 Jul 14, 2010 (132)
25 1000GENOMES ss238665279 Jul 15, 2010 (132)
26 BL ss253001846 May 09, 2011 (134)
27 GMI ss276400857 May 04, 2012 (137)
28 GMI ss284316164 Apr 25, 2013 (138)
29 PJP ss292535579 May 09, 2011 (134)
30 TISHKOFF ss555444497 Apr 25, 2013 (138)
31 SSMP ss649024647 Apr 25, 2013 (138)
32 EVA-GONL ss976633279 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1068966622 Aug 21, 2014 (142)
34 1000GENOMES ss1296469723 Aug 21, 2014 (142)
35 DDI ss1428520162 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1578798105 Apr 01, 2015 (144)
37 EVA_DECODE ss1586039444 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1603107995 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1646102028 Apr 01, 2015 (144)
40 HAMMER_LAB ss1796481880 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1919865893 Feb 12, 2016 (147)
42 GENOMED ss1968725914 Jul 19, 2016 (147)
43 JJLAB ss2020461948 Sep 14, 2016 (149)
44 USC_VALOUEV ss2148506166 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2228682682 Dec 20, 2016 (150)
46 TOPMED ss2394598082 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2624745621 Nov 08, 2017 (151)
48 GRF ss2703067333 Nov 08, 2017 (151)
49 GNOMAD ss2771307852 Nov 08, 2017 (151)
50 SWEGEN ss2989201792 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3023997475 Nov 08, 2017 (151)
52 TOPMED ss3302927842 Nov 08, 2017 (151)
53 CSHL ss3344138715 Nov 08, 2017 (151)
54 URBANLAB ss3646995272 Oct 11, 2018 (152)
55 EGCUT_WGS ss3657157592 Jul 13, 2019 (153)
56 EVA_DECODE ss3703525181 Jul 13, 2019 (153)
57 ACPOP ss3728272418 Jul 13, 2019 (153)
58 EVA ss3756526621 Jul 13, 2019 (153)
59 KHV_HUMAN_GENOMES ss3800905327 Jul 13, 2019 (153)
60 EVA ss3826890260 Apr 25, 2020 (154)
61 EVA ss3836852503 Apr 25, 2020 (154)
62 EVA ss3842267202 Apr 25, 2020 (154)
63 SGDP_PRJ ss3851880492 Apr 25, 2020 (154)
64 KRGDB ss3897298624 Apr 25, 2020 (154)
65 KOGIC ss3947391538 Apr 25, 2020 (154)
66 EVA ss3984882064 Apr 26, 2021 (155)
67 TOPMED ss4499012632 Apr 26, 2021 (155)
68 TOMMO_GENOMICS ss5150501160 Apr 26, 2021 (155)
69 1000Genomes NC_000002.11 - 30244823 Oct 11, 2018 (152)
70 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 30244823 Oct 11, 2018 (152)
71 Genetic variation in the Estonian population NC_000002.11 - 30244823 Oct 11, 2018 (152)
72 The Danish reference pan genome NC_000002.11 - 30244823 Apr 25, 2020 (154)
73 gnomAD - Genomes NC_000002.12 - 30021957 Apr 26, 2021 (155)
74 Genome of the Netherlands Release 5 NC_000002.11 - 30244823 Apr 25, 2020 (154)
75 HapMap NC_000002.12 - 30021957 Apr 25, 2020 (154)
76 KOREAN population from KRGDB NC_000002.11 - 30244823 Apr 25, 2020 (154)
77 Korean Genome Project NC_000002.12 - 30021957 Apr 25, 2020 (154)
78 Northern Sweden NC_000002.11 - 30244823 Jul 13, 2019 (153)
79 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 30244823 Apr 26, 2021 (155)
80 Qatari NC_000002.11 - 30244823 Apr 25, 2020 (154)
81 SGDP_PRJ NC_000002.11 - 30244823 Apr 25, 2020 (154)
82 Siberian NC_000002.11 - 30244823 Apr 25, 2020 (154)
83 8.3KJPN NC_000002.11 - 30244823 Apr 26, 2021 (155)
84 TopMed NC_000002.12 - 30021957 Apr 26, 2021 (155)
85 UK 10K study - Twins NC_000002.11 - 30244823 Oct 11, 2018 (152)
86 A Vietnamese Genetic Variation Database NC_000002.11 - 30244823 Jul 13, 2019 (153)
87 ALFA NC_000002.12 - 30021957 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)
rs57181049 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81222241, ss84410572 NC_000002.9:30156473:T:C NC_000002.12:30021956:T:C (self)
ss91103222, ss109366410, ss110011756, ss117639537, ss163240767, ss164085724, ss166349161, ss200215620, ss205769301, ss253001846, ss276400857, ss284316164, ss292535579, ss1586039444 NC_000002.10:30098326:T:C NC_000002.12:30021956:T:C (self)
7390641, 4103829, 2895840, 4973866, 1802133, 4476018, 1557283, 107991, 1907823, 3897472, 1022520, 8470467, 4103829, 893309, ss219144474, ss231093431, ss238665279, ss555444497, ss649024647, ss976633279, ss1068966622, ss1296469723, ss1428520162, ss1578798105, ss1603107995, ss1646102028, ss1796481880, ss1919865893, ss1968725914, ss2020461948, ss2148506166, ss2394598082, ss2624745621, ss2703067333, ss2771307852, ss2989201792, ss3344138715, ss3657157592, ss3728272418, ss3756526621, ss3826890260, ss3836852503, ss3851880492, ss3897298624, ss3984882064, ss5150501160 NC_000002.11:30244822:T:C NC_000002.12:30021956:T:C (self)
52506952, 1762199, 3769539, 188935235, 302835511, 516646668, ss2228682682, ss3023997475, ss3302927842, ss3646995272, ss3703525181, ss3800905327, ss3842267202, ss3947391538, ss4499012632 NC_000002.12:30021956:T:C NC_000002.12:30021956:T:C (self)
ss19454293, ss21660689 NT_022184.13:9060755:T:C NC_000002.12:30021956:T:C (self)
ss2743610, ss65771831, ss68366779, ss96384830, ss106078517, ss120244553, ss135904219, ss138413196, ss156854363 NT_022184.15:9066709:T:C NC_000002.12:30021956: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 rs1868071

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