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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.

rs867921

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:156383183 (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 / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.263845 (73998/280460, ALFA)
C=0.372783 (98672/264690, TOPMED)
C=0.45347 (35678/78678, PAGE_STUDY) (+ 20 more)
C=0.48754 (13776/28256, 14KJPN)
C=0.48490 (8127/16760, 8.3KJPN)
C=0.4194 (2686/6404, 1000G_30x)
C=0.4227 (2117/5008, 1000G)
C=0.3109 (1393/4480, Estonian)
C=0.2696 (1039/3854, ALSPAC)
C=0.2503 (928/3708, TWINSUK)
T=0.4608 (1350/2930, KOREAN)
C=0.3844 (801/2084, HGDP_Stanford)
C=0.4894 (922/1884, HapMap)
T=0.4531 (830/1832, Korea1K)
C=0.295 (294/998, GoNL)
T=0.406 (318/784, PRJEB37584)
C=0.232 (139/600, NorthernSweden)
T=0.345 (116/336, SGDP_PRJ)
C=0.255 (55/216, Qatari)
T=0.439 (93/212, Vietnamese)
C=0.21 (14/68, Ancient Sardinia)
C=0.28 (11/40, GENOME_DK)
T=0.40 (12/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RHBG : 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 285496 T=0.734704 A=0.000000, C=0.265296, G=0.000000
European Sub 256716 T=0.748547 A=0.000000, C=0.251453, G=0.000000
African Sub 6272 T=0.4890 A=0.0000, C=0.5110, G=0.0000
African Others Sub 250 T=0.424 A=0.000, C=0.576, G=0.000
African American Sub 6022 T=0.4917 A=0.0000, C=0.5083, G=0.0000
Asian Sub 3640 T=0.4470 A=0.0000, C=0.5530, G=0.0000
East Asian Sub 2982 T=0.4427 A=0.0000, C=0.5573, G=0.0000
Other Asian Sub 658 T=0.467 A=0.000, C=0.533, G=0.000
Latin American 1 Sub 890 T=0.729 A=0.000, C=0.271, G=0.000
Latin American 2 Sub 5538 T=0.6891 A=0.0000, C=0.3109, G=0.0000
South Asian Sub 5150 T=0.6567 A=0.0000, C=0.3433, G=0.0000
Other Sub 7290 T=0.6927 A=0.0000, C=0.3073, G=0.0000


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 280460 T=0.736155 A=0.000000, C=0.263845, G=0.000000
Allele Frequency Aggregator European Sub 253622 T=0.748618 A=0.000000, C=0.251382, G=0.000000
Allele Frequency Aggregator Other Sub 6490 T=0.6985 A=0.0000, C=0.3015, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 5538 T=0.6891 A=0.0000, C=0.3109, G=0.0000
Allele Frequency Aggregator South Asian Sub 5150 T=0.6567 A=0.0000, C=0.3433, G=0.0000
Allele Frequency Aggregator African Sub 5130 T=0.5047 A=0.0000, C=0.4953, G=0.0000
Allele Frequency Aggregator Asian Sub 3640 T=0.4470 A=0.0000, C=0.5530, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 890 T=0.729 A=0.000, C=0.271, G=0.000
TopMed Global Study-wide 264690 T=0.627217 C=0.372783
The PAGE Study Global Study-wide 78678 T=0.54653 C=0.45347
The PAGE Study AfricanAmerican Sub 32504 T=0.45278 C=0.54722
The PAGE Study Mexican Sub 10802 T=0.68043 C=0.31957
The PAGE Study Asian Sub 8316 T=0.5057 C=0.4943
The PAGE Study PuertoRican Sub 7918 T=0.6812 C=0.3188
The PAGE Study NativeHawaiian Sub 4534 T=0.4400 C=0.5600
The PAGE Study Cuban Sub 4230 T=0.6875 C=0.3125
The PAGE Study Dominican Sub 3828 T=0.5700 C=0.4300
The PAGE Study CentralAmerican Sub 2450 T=0.6200 C=0.3800
The PAGE Study SouthAmerican Sub 1982 T=0.6670 C=0.3330
The PAGE Study NativeAmerican Sub 1258 T=0.6757 C=0.3243
The PAGE Study SouthAsian Sub 856 T=0.652 C=0.348
14KJPN JAPANESE Study-wide 28256 T=0.51246 C=0.48754
8.3KJPN JAPANESE Study-wide 16760 T=0.51510 C=0.48490
1000Genomes_30x Global Study-wide 6404 T=0.5803 A=0.0003, C=0.4194
1000Genomes_30x African Sub 1786 T=0.3947 A=0.0000, C=0.6053
1000Genomes_30x Europe Sub 1266 T=0.7670 A=0.0000, C=0.2330
1000Genomes_30x South Asian Sub 1202 T=0.6622 A=0.0008, C=0.3369
1000Genomes_30x East Asian Sub 1170 T=0.4598 A=0.0009, C=0.5393
1000Genomes_30x American Sub 980 T=0.720 A=0.000, C=0.280
1000Genomes Global Study-wide 5008 T=0.5773 C=0.4227
1000Genomes African Sub 1322 T=0.3933 C=0.6067
1000Genomes East Asian Sub 1008 T=0.4563 C=0.5437
1000Genomes Europe Sub 1006 T=0.7604 C=0.2396
1000Genomes South Asian Sub 978 T=0.669 C=0.331
1000Genomes American Sub 694 T=0.709 C=0.291
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6891 C=0.3109
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7304 C=0.2696
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7497 C=0.2503
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4608 C=0.5392
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.6156 C=0.3844
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.460 C=0.540
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.676 C=0.324
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.737 C=0.263
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.725 C=0.275
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.343 C=0.657
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.731 C=0.269
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.78 C=0.22
HapMap Global Study-wide 1884 T=0.5106 C=0.4894
HapMap American Sub 768 T=0.643 C=0.357
HapMap African Sub 686 T=0.322 C=0.678
HapMap Asian Sub 254 T=0.476 C=0.524
HapMap Europe Sub 176 T=0.716 C=0.284
Korean Genome Project KOREAN Study-wide 1832 T=0.4531 C=0.5469
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.705 C=0.295
CNV burdens in cranial meningiomas Global Study-wide 784 T=0.406 C=0.594
CNV burdens in cranial meningiomas CRM Sub 784 T=0.406 C=0.594
Northern Sweden ACPOP Study-wide 600 T=0.768 C=0.232
SGDP_PRJ Global Study-wide 336 T=0.345 A=0.003, C=0.652
Qatari Global Study-wide 216 T=0.745 C=0.255
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.439 C=0.561
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 68 T=0.79 C=0.21
The Danish reference pan genome Danish Study-wide 40 T=0.72 C=0.28
Siberian Global Study-wide 30 T=0.40 C=0.60
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.156383183T>A
GRCh38.p14 chr 1 NC_000001.11:g.156383183T>C
GRCh38.p14 chr 1 NC_000001.11:g.156383183T>G
GRCh37.p13 chr 1 NC_000001.10:g.156352974T>A
GRCh37.p13 chr 1 NC_000001.10:g.156352974T>C
GRCh37.p13 chr 1 NC_000001.10:g.156352974T>G
Gene: RHBG, Rh family B glycoprotein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RHBG transcript variant 2 NM_001256395.2:c.1027+314…

NM_001256395.2:c.1027+314T>A

N/A Intron Variant
RHBG transcript variant 3 NM_001256396.2:c.1144+314…

NM_001256396.2:c.1144+314T>A

N/A Intron Variant
RHBG transcript variant 1 NM_020407.5:c.1234+314T>A N/A Intron Variant
RHBG transcript variant 4 NR_046115.2:n. N/A Intron Variant
RHBG transcript variant 5 NR_146763.2:n. N/A Intron Variant
RHBG transcript variant 6 NR_146764.2:n. N/A Intron Variant
RHBG transcript variant 7 NR_146765.2:n. N/A Intron Variant
RHBG transcript variant X6 XM_011509799.3:c.1060+314…

XM_011509799.3:c.1060+314T>A

N/A Intron Variant
RHBG transcript variant X7 XM_011509800.3:c.748+314T…

XM_011509800.3:c.748+314T>A

N/A Intron Variant
RHBG transcript variant X4 XM_017001857.2:c.1234+314…

XM_017001857.2:c.1234+314T>A

N/A Intron Variant
RHBG transcript variant X5 XM_017001858.2:c.1234+314…

XM_017001858.2:c.1234+314T>A

N/A Intron Variant
RHBG transcript variant X10 XM_017001859.2:c.733+314T…

XM_017001859.2:c.733+314T>A

N/A Intron Variant
RHBG transcript variant X8 XM_047425851.1:c. N/A Genic Downstream Transcript Variant
RHBG transcript variant X1 XR_001737323.2:n. N/A Intron Variant
RHBG transcript variant X3 XR_001737324.2:n. N/A Intron Variant
RHBG transcript variant X2 XR_001737325.2:n. N/A Intron Variant
RHBG transcript variant X9 XR_007062006.1: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
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 G
GRCh38.p14 chr 1 NC_000001.11:g.156383183= NC_000001.11:g.156383183T>A NC_000001.11:g.156383183T>C NC_000001.11:g.156383183T>G
GRCh37.p13 chr 1 NC_000001.10:g.156352974= NC_000001.10:g.156352974T>A NC_000001.10:g.156352974T>C NC_000001.10:g.156352974T>G
RHBG transcript variant 2 NM_001256395.1:c.1027+314= NM_001256395.1:c.1027+314T>A NM_001256395.1:c.1027+314T>C NM_001256395.1:c.1027+314T>G
RHBG transcript variant 2 NM_001256395.2:c.1027+314= NM_001256395.2:c.1027+314T>A NM_001256395.2:c.1027+314T>C NM_001256395.2:c.1027+314T>G
RHBG transcript variant 3 NM_001256396.1:c.1144+314= NM_001256396.1:c.1144+314T>A NM_001256396.1:c.1144+314T>C NM_001256396.1:c.1144+314T>G
RHBG transcript variant 3 NM_001256396.2:c.1144+314= NM_001256396.2:c.1144+314T>A NM_001256396.2:c.1144+314T>C NM_001256396.2:c.1144+314T>G
RHBG transcript variant 1 NM_020407.4:c.1234+314= NM_020407.4:c.1234+314T>A NM_020407.4:c.1234+314T>C NM_020407.4:c.1234+314T>G
RHBG transcript variant 1 NM_020407.5:c.1234+314= NM_020407.5:c.1234+314T>A NM_020407.5:c.1234+314T>C NM_020407.5:c.1234+314T>G
RHBG transcript variant X6 XM_011509799.3:c.1060+314= XM_011509799.3:c.1060+314T>A XM_011509799.3:c.1060+314T>C XM_011509799.3:c.1060+314T>G
RHBG transcript variant X7 XM_011509800.3:c.748+314= XM_011509800.3:c.748+314T>A XM_011509800.3:c.748+314T>C XM_011509800.3:c.748+314T>G
RHBG transcript variant X4 XM_017001857.2:c.1234+314= XM_017001857.2:c.1234+314T>A XM_017001857.2:c.1234+314T>C XM_017001857.2:c.1234+314T>G
RHBG transcript variant X5 XM_017001858.2:c.1234+314= XM_017001858.2:c.1234+314T>A XM_017001858.2:c.1234+314T>C XM_017001858.2:c.1234+314T>G
RHBG transcript variant X10 XM_017001859.2:c.733+314= XM_017001859.2:c.733+314T>A XM_017001859.2:c.733+314T>C XM_017001859.2:c.733+314T>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#.

124 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1289874 Oct 05, 2000 (86)
2 YUSUKE ss4976833 Aug 28, 2002 (108)
3 WUGSC_SSAHASNP ss14424582 Dec 05, 2003 (123)
4 ILLUMINA ss67882826 Nov 30, 2006 (127)
5 ILLUMINA ss68023053 Nov 30, 2006 (127)
6 ILLUMINA ss68297645 Dec 12, 2006 (127)
7 PERLEGEN ss68780759 May 17, 2007 (127)
8 ILLUMINA ss70976044 May 25, 2008 (130)
9 ILLUMINA ss71587679 May 17, 2007 (127)
10 ILLUMINA ss75508035 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss83584044 Dec 15, 2007 (130)
12 HGSV ss83742028 Dec 15, 2007 (130)
13 BGI ss106602532 Feb 05, 2009 (130)
14 1000GENOMES ss108605809 Jan 23, 2009 (130)
15 1000GENOMES ss111168535 Jan 25, 2009 (130)
16 ILLUMINA-UK ss119036334 Feb 15, 2009 (130)
17 ILLUMINA ss154475161 Dec 01, 2009 (131)
18 GMI ss155763702 Dec 01, 2009 (131)
19 ILLUMINA ss159649637 Dec 01, 2009 (131)
20 ILLUMINA ss160959662 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss164140738 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss167142189 Jul 04, 2010 (132)
23 ILLUMINA ss174755414 Jul 04, 2010 (132)
24 BUSHMAN ss199098035 Jul 04, 2010 (132)
25 1000GENOMES ss218655335 Jul 14, 2010 (132)
26 1000GENOMES ss230734975 Jul 14, 2010 (132)
27 1000GENOMES ss238381979 Jul 15, 2010 (132)
28 BL ss253516156 May 09, 2011 (134)
29 GMI ss276054324 May 04, 2012 (137)
30 PJP ss290638688 May 09, 2011 (134)
31 ILLUMINA ss481814497 May 04, 2012 (137)
32 ILLUMINA ss481847005 May 04, 2012 (137)
33 ILLUMINA ss482807765 Sep 08, 2015 (146)
34 ILLUMINA ss485701899 May 04, 2012 (137)
35 TISHKOFF ss554714811 Apr 25, 2013 (138)
36 ILLUMINA ss783296518 Aug 21, 2014 (142)
37 ILLUMINA ss832557828 Apr 01, 2015 (144)
38 ILLUMINA ss833160452 Aug 21, 2014 (142)
39 ILLUMINA ss833751280 Aug 21, 2014 (142)
40 EVA-GONL ss975693094 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1068275836 Aug 21, 2014 (142)
42 1000GENOMES ss1292970469 Aug 21, 2014 (142)
43 DDI ss1425981098 Apr 01, 2015 (144)
44 EVA_GENOME_DK ss1574397171 Apr 01, 2015 (144)
45 EVA_DECODE ss1585074933 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1601236404 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1644230437 Apr 01, 2015 (144)
48 EVA_SVP ss1712371689 Apr 01, 2015 (144)
49 ILLUMINA ss1751873360 Sep 08, 2015 (146)
50 HAMMER_LAB ss1795104300 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1918926668 Feb 12, 2016 (147)
52 ILLUMINA ss1946010295 Feb 12, 2016 (147)
53 ILLUMINA ss1958319481 Feb 12, 2016 (147)
54 GENOMED ss1966869157 Jul 19, 2016 (147)
55 JJLAB ss2019978342 Sep 14, 2016 (149)
56 USC_VALOUEV ss2148004077 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2166635887 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2624496975 Nov 08, 2017 (151)
59 ILLUMINA ss2632577418 Nov 08, 2017 (151)
60 GRF ss2697976720 Nov 08, 2017 (151)
61 ILLUMINA ss2710683154 Nov 08, 2017 (151)
62 GNOMAD ss2761457044 Nov 08, 2017 (151)
63 SWEGEN ss2987771166 Nov 08, 2017 (151)
64 ILLUMINA ss3021138184 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3023746079 Nov 08, 2017 (151)
66 CSHL ss3343714701 Nov 08, 2017 (151)
67 ILLUMINA ss3625551284 Oct 11, 2018 (152)
68 ILLUMINA ss3632910410 Oct 11, 2018 (152)
69 ILLUMINA ss3633605781 Oct 11, 2018 (152)
70 ILLUMINA ss3634350946 Oct 11, 2018 (152)
71 ILLUMINA ss3635299218 Oct 11, 2018 (152)
72 ILLUMINA ss3636030143 Oct 11, 2018 (152)
73 ILLUMINA ss3637049712 Oct 11, 2018 (152)
74 ILLUMINA ss3637788306 Oct 11, 2018 (152)
75 ILLUMINA ss3638910772 Oct 11, 2018 (152)
76 ILLUMINA ss3639767439 Oct 11, 2018 (152)
77 ILLUMINA ss3640058300 Oct 11, 2018 (152)
78 ILLUMINA ss3640987390 Oct 11, 2018 (152)
79 ILLUMINA ss3641281424 Oct 11, 2018 (152)
80 ILLUMINA ss3642797517 Oct 11, 2018 (152)
81 ILLUMINA ss3643820855 Oct 11, 2018 (152)
82 ILLUMINA ss3644506256 Oct 11, 2018 (152)
83 ILLUMINA ss3651473280 Oct 11, 2018 (152)
84 EGCUT_WGS ss3655710146 Jul 12, 2019 (153)
85 EVA_DECODE ss3687805125 Jul 12, 2019 (153)
86 ILLUMINA ss3725067112 Jul 12, 2019 (153)
87 ACPOP ss3727494029 Jul 12, 2019 (153)
88 ILLUMINA ss3744054150 Jul 12, 2019 (153)
89 ILLUMINA ss3744651847 Jul 12, 2019 (153)
90 EVA ss3746820769 Jul 12, 2019 (153)
91 PAGE_CC ss3770842320 Jul 12, 2019 (153)
92 ILLUMINA ss3772152952 Jul 12, 2019 (153)
93 PACBIO ss3783569358 Jul 12, 2019 (153)
94 PACBIO ss3789200116 Jul 12, 2019 (153)
95 PACBIO ss3794072119 Jul 12, 2019 (153)
96 KHV_HUMAN_GENOMES ss3799820643 Jul 12, 2019 (153)
97 EVA ss3826428805 Apr 25, 2020 (154)
98 EVA ss3836608991 Apr 25, 2020 (154)
99 EVA ss3842018275 Apr 25, 2020 (154)
100 HGDP ss3847349717 Apr 25, 2020 (154)
101 SGDP_PRJ ss3850028056 Apr 25, 2020 (154)
102 KRGDB ss3895243666 Apr 25, 2020 (154)
103 KOGIC ss3945677924 Apr 25, 2020 (154)
104 EVA ss3984464971 Apr 25, 2021 (155)
105 EVA ss3984825964 Apr 25, 2021 (155)
106 TOPMED ss4468732180 Apr 25, 2021 (155)
107 TOMMO_GENOMICS ss5146542590 Apr 25, 2021 (155)
108 1000G_HIGH_COVERAGE ss5244332969 Oct 12, 2022 (156)
109 1000G_HIGH_COVERAGE ss5244332970 Oct 12, 2022 (156)
110 EVA ss5314651709 Oct 12, 2022 (156)
111 EVA ss5322124214 Oct 12, 2022 (156)
112 HUGCELL_USP ss5444921233 Oct 12, 2022 (156)
113 EVA ss5506032313 Oct 12, 2022 (156)
114 1000G_HIGH_COVERAGE ss5517681341 Oct 12, 2022 (156)
115 SANFORD_IMAGENETICS ss5626612130 Oct 12, 2022 (156)
116 TOMMO_GENOMICS ss5673759249 Oct 12, 2022 (156)
117 EVA ss5799499117 Oct 12, 2022 (156)
118 YY_MCH ss5801268896 Oct 12, 2022 (156)
119 EVA ss5832679971 Oct 12, 2022 (156)
120 EVA ss5847557356 Oct 12, 2022 (156)
121 EVA ss5849112155 Oct 12, 2022 (156)
122 EVA ss5910289294 Oct 12, 2022 (156)
123 EVA ss5938406334 Oct 12, 2022 (156)
124 EVA ss5979990821 Oct 12, 2022 (156)
125 1000Genomes NC_000001.10 - 156352974 Oct 11, 2018 (152)
126 1000Genomes_30x NC_000001.11 - 156383183 Oct 12, 2022 (156)
127 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 156352974 Oct 11, 2018 (152)
128 Genetic variation in the Estonian population NC_000001.10 - 156352974 Oct 11, 2018 (152)
129 The Danish reference pan genome NC_000001.10 - 156352974 Apr 25, 2020 (154)
130 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 27414796 (NC_000001.11:156383182:T:A 13/140118)
Row 27414797 (NC_000001.11:156383182:T:C 50379/140058)
Row 27414798 (NC_000001.11:156383182:T:G 2/140118)

- Apr 25, 2021 (155)
131 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 27414796 (NC_000001.11:156383182:T:A 13/140118)
Row 27414797 (NC_000001.11:156383182:T:C 50379/140058)
Row 27414798 (NC_000001.11:156383182:T:G 2/140118)

- Apr 25, 2021 (155)
132 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 27414796 (NC_000001.11:156383182:T:A 13/140118)
Row 27414797 (NC_000001.11:156383182:T:C 50379/140058)
Row 27414798 (NC_000001.11:156383182:T:G 2/140118)

- Apr 25, 2021 (155)
133 Genome of the Netherlands Release 5 NC_000001.10 - 156352974 Apr 25, 2020 (154)
134 HGDP-CEPH-db Supplement 1 NC_000001.9 - 154619598 Apr 25, 2020 (154)
135 HapMap NC_000001.11 - 156383183 Apr 25, 2020 (154)
136 KOREAN population from KRGDB NC_000001.10 - 156352974 Apr 25, 2020 (154)
137 Korean Genome Project NC_000001.11 - 156383183 Apr 25, 2020 (154)
138 Northern Sweden NC_000001.10 - 156352974 Jul 12, 2019 (153)
139 The PAGE Study NC_000001.11 - 156383183 Jul 12, 2019 (153)
140 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 156352974 Apr 25, 2021 (155)
141 CNV burdens in cranial meningiomas NC_000001.10 - 156352974 Apr 25, 2021 (155)
142 Qatari NC_000001.10 - 156352974 Apr 25, 2020 (154)
143 SGDP_PRJ NC_000001.10 - 156352974 Apr 25, 2020 (154)
144 Siberian NC_000001.10 - 156352974 Apr 25, 2020 (154)
145 8.3KJPN NC_000001.10 - 156352974 Apr 25, 2021 (155)
146 14KJPN NC_000001.11 - 156383183 Oct 12, 2022 (156)
147 TopMed NC_000001.11 - 156383183 Apr 25, 2021 (155)
148 UK 10K study - Twins NC_000001.10 - 156352974 Oct 11, 2018 (152)
149 A Vietnamese Genetic Variation Database NC_000001.10 - 156352974 Jul 12, 2019 (153)
150 ALFA NC_000001.11 - 156383183 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)
rs3790463 Oct 08, 2002 (108)
rs10317808 Sep 24, 2004 (123)
rs58877408 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2045036, ss2761457044, ss3850028056 NC_000001.10:156352973:T:A NC_000001.11:156383182:T:A (self)
5207276, 7377356043, ss2166635887, ss5244332970, ss5517681341 NC_000001.11:156383182:T:A NC_000001.11:156383182:T:A (self)
ss83742028, ss3638910772, ss3639767439, ss3643820855 NC_000001.8:153166046:T:C NC_000001.11:156383182:T:C (self)
27609, ss108605809, ss111168535, ss119036334, ss160959662, ss164140738, ss167142189, ss199098035, ss253516156, ss276054324, ss290638688, ss481814497, ss1585074933, ss1712371689, ss3642797517, ss3847349717 NC_000001.9:154619597:T:C NC_000001.11:156383182:T:C (self)
3764108, 2046130, 1448394, 1711821, 887961, 2421060, 778894, 51891, 14287, 968598, 2045036, 520431, 4511897, 2046130, 438340, ss218655335, ss230734975, ss238381979, ss481847005, ss482807765, ss485701899, ss554714811, ss783296518, ss832557828, ss833160452, ss833751280, ss975693094, ss1068275836, ss1292970469, ss1425981098, ss1574397171, ss1601236404, ss1644230437, ss1751873360, ss1795104300, ss1918926668, ss1946010295, ss1958319481, ss1966869157, ss2019978342, ss2148004077, ss2624496975, ss2632577418, ss2697976720, ss2710683154, ss2761457044, ss2987771166, ss3021138184, ss3343714701, ss3625551284, ss3632910410, ss3633605781, ss3634350946, ss3635299218, ss3636030143, ss3637049712, ss3637788306, ss3640058300, ss3640987390, ss3641281424, ss3644506256, ss3651473280, ss3655710146, ss3727494029, ss3744054150, ss3744651847, ss3746820769, ss3772152952, ss3783569358, ss3789200116, ss3794072119, ss3826428805, ss3836608991, ss3850028056, ss3895243666, ss3984464971, ss3984825964, ss5146542590, ss5314651709, ss5322124214, ss5506032313, ss5626612130, ss5799499117, ss5832679971, ss5847557356, ss5938406334, ss5979990821 NC_000001.10:156352973:T:C NC_000001.11:156383182:T:C (self)
5207276, 178169, 2055925, 63789, 7596353, 32338515, 7377356043, ss2166635887, ss3023746079, ss3687805125, ss3725067112, ss3770842320, ss3799820643, ss3842018275, ss3945677924, ss4468732180, ss5244332969, ss5444921233, ss5517681341, ss5673759249, ss5801268896, ss5849112155, ss5910289294 NC_000001.11:156383182:T:C NC_000001.11:156383182:T:C (self)
ss1289874, ss4976833, ss67882826, ss68023053, ss68297645, ss68780759, ss70976044, ss71587679, ss75508035, ss83584044, ss106602532, ss154475161, ss155763702, ss159649637, ss174755414 NT_004487.19:7841615:T:C NC_000001.11:156383182:T:C (self)
ss14424582 NT_079484.1:2802805:T:C NC_000001.11:156383182:T:C (self)
7377356043 NC_000001.11:156383182:T:G NC_000001.11:156383182:T:G (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 rs867921

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