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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs3020781

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:155299985 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.403419 (106781/264690, TOPMED)
G=0.388012 (54324/140006, GnomAD)
G=0.29616 (23397/79000, ALFA) (+ 18 more)
A=0.25248 (7134/28256, 14KJPN)
A=0.25268 (4235/16760, 8.3KJPN)
G=0.4717 (3021/6404, 1000G_30x)
G=0.4748 (2378/5008, 1000G)
G=0.2516 (1127/4480, Estonian)
G=0.2605 (1004/3854, ALSPAC)
G=0.2573 (954/3708, TWINSUK)
A=0.2218 (650/2930, KOREAN)
G=0.249 (249/998, GoNL)
A=0.230 (181/788, PRJEB37584)
G=0.295 (177/600, NorthernSweden)
G=0.172 (92/534, MGP)
A=0.313 (122/390, SGDP_PRJ)
A=0.479 (157/328, HapMap)
G=0.250 (54/216, Qatari)
A=0.481 (102/212, Vietnamese)
G=0.20 (8/40, GENOME_DK)
A=0.28 (11/40, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PKLR : Intron Variant
Publications
2 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 79000 A=0.70384 G=0.29616
European Sub 63268 A=0.73808 G=0.26192
African Sub 3962 A=0.4013 G=0.5987
African Others Sub 144 A=0.340 G=0.660
African American Sub 3818 A=0.4036 G=0.5964
Asian Sub 560 A=0.309 G=0.691
East Asian Sub 450 A=0.280 G=0.720
Other Asian Sub 110 A=0.427 G=0.573
Latin American 1 Sub 352 A=0.651 G=0.349
Latin American 2 Sub 5694 A=0.5904 G=0.4096
South Asian Sub 148 A=0.716 G=0.284
Other Sub 5016 A=0.6870 G=0.3130


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=0.596581 G=0.403419
gnomAD - Genomes Global Study-wide 140006 A=0.611988 G=0.388012
gnomAD - Genomes European Sub 75844 A=0.72935 G=0.27065
gnomAD - Genomes African Sub 41936 A=0.39341 G=0.60659
gnomAD - Genomes American Sub 13636 A=0.66361 G=0.33639
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.7797 G=0.2203
gnomAD - Genomes East Asian Sub 3126 A=0.2953 G=0.7047
gnomAD - Genomes Other Sub 2146 A=0.6095 G=0.3905
Allele Frequency Aggregator Total Global 79000 A=0.70384 G=0.29616
Allele Frequency Aggregator European Sub 63268 A=0.73808 G=0.26192
Allele Frequency Aggregator Latin American 2 Sub 5694 A=0.5904 G=0.4096
Allele Frequency Aggregator Other Sub 5016 A=0.6870 G=0.3130
Allele Frequency Aggregator African Sub 3962 A=0.4013 G=0.5987
Allele Frequency Aggregator Asian Sub 560 A=0.309 G=0.691
Allele Frequency Aggregator Latin American 1 Sub 352 A=0.651 G=0.349
Allele Frequency Aggregator South Asian Sub 148 A=0.716 G=0.284
14KJPN JAPANESE Study-wide 28256 A=0.25248 G=0.74752
8.3KJPN JAPANESE Study-wide 16760 A=0.25268 G=0.74732
1000Genomes_30x Global Study-wide 6404 A=0.5283 G=0.4717
1000Genomes_30x African Sub 1786 A=0.3903 G=0.6097
1000Genomes_30x Europe Sub 1266 A=0.7196 G=0.2804
1000Genomes_30x South Asian Sub 1202 A=0.6389 G=0.3611
1000Genomes_30x East Asian Sub 1170 A=0.3068 G=0.6932
1000Genomes_30x American Sub 980 A=0.661 G=0.339
1000Genomes Global Study-wide 5008 A=0.5252 G=0.4748
1000Genomes African Sub 1322 A=0.3828 G=0.6172
1000Genomes East Asian Sub 1008 A=0.3095 G=0.6905
1000Genomes Europe Sub 1006 A=0.7177 G=0.2823
1000Genomes South Asian Sub 978 A=0.645 G=0.355
1000Genomes American Sub 694 A=0.661 G=0.339
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7484 G=0.2516
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7395 G=0.2605
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7427 G=0.2573
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.2218 G=0.7782, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.751 G=0.249
CNV burdens in cranial meningiomas Global Study-wide 788 A=0.230 G=0.770
CNV burdens in cranial meningiomas CRM Sub 788 A=0.230 G=0.770
Northern Sweden ACPOP Study-wide 600 A=0.705 G=0.295
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.828 G=0.172
SGDP_PRJ Global Study-wide 390 A=0.313 G=0.687
HapMap Global Study-wide 328 A=0.479 G=0.521
HapMap African Sub 120 A=0.483 G=0.517
HapMap American Sub 120 A=0.675 G=0.325
HapMap Asian Sub 88 A=0.20 G=0.80
Qatari Global Study-wide 216 A=0.750 G=0.250
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.481 G=0.519
The Danish reference pan genome Danish Study-wide 40 A=0.80 G=0.20
Siberian Global Study-wide 40 A=0.28 G=0.72
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.155299985A>G
GRCh38.p14 chr 1 NC_000001.11:g.155299985A>T
GRCh37.p13 chr 1 NC_000001.10:g.155269776A>G
GRCh37.p13 chr 1 NC_000001.10:g.155269776A>T
PKLR RefSeqGene (LRG_1136) NG_011677.1:g.6450T>C
PKLR RefSeqGene (LRG_1136) NG_011677.1:g.6450T>A
GRCh38.p14 chr 1 alt locus HSCHR1_2_CTG31 NW_003315906.1:g.105008A>G
GRCh38.p14 chr 1 alt locus HSCHR1_2_CTG31 NW_003315906.1:g.105008A>T
Gene: PKLR, pyruvate kinase L/R (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PKLR transcript variant 1 NM_000298.6:c.283+113T>C N/A Intron Variant
PKLR transcript variant 2 NM_181871.4:c.190+113T>C N/A Intron Variant
PKLR transcript variant X4 XM_006711386.5:c.91+113T>C N/A Intron Variant
PKLR transcript variant X3 XM_011509640.4:c.91+113T>C N/A Intron Variant
PKLR transcript variant X5 XM_017001493.1:c.283+113T…

XM_017001493.1:c.283+113T>C

 		N/A Intron Variant
PKLR transcript variant X1 XM_047422591.1:c.283+113T…

XM_047422591.1:c.283+113T>C

 		N/A Intron Variant
PKLR transcript variant X2 XM_047422592.1:c.283+113T…

XM_047422592.1:c.283+113T>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.

Allele: G (allele ID: 1227465 )
ClinVar Accession Disease Names Clinical Significance
RCV001635543.3 not provided 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 A= G T
GRCh38.p14 chr 1 NC_000001.11:g.155299985= NC_000001.11:g.155299985A>G NC_000001.11:g.155299985A>T
GRCh37.p13 chr 1 NC_000001.10:g.155269776= NC_000001.10:g.155269776A>G NC_000001.10:g.155269776A>T
PKLR RefSeqGene (LRG_1136) NG_011677.1:g.6450= NG_011677.1:g.6450T>C NG_011677.1:g.6450T>A
GRCh38.p14 chr 1 alt locus HSCHR1_2_CTG31 NW_003315906.1:g.105008= NW_003315906.1:g.105008A>G NW_003315906.1:g.105008A>T
PKLR transcript variant 1 NM_000298.5:c.283+113= NM_000298.5:c.283+113T>C NM_000298.5:c.283+113T>A
PKLR transcript variant 1 NM_000298.6:c.283+113= NM_000298.6:c.283+113T>C NM_000298.6:c.283+113T>A
PKLR transcript variant 2 NM_181871.3:c.190+113= NM_181871.3:c.190+113T>C NM_181871.3:c.190+113T>A
PKLR transcript variant 2 NM_181871.4:c.190+113= NM_181871.4:c.190+113T>C NM_181871.4:c.190+113T>A
PKLR transcript variant X1 XM_005245266.1:c.442+113= XM_005245266.1:c.442+113T>C XM_005245266.1:c.442+113T>A
PKLR transcript variant X4 XM_006711386.5:c.91+113= XM_006711386.5:c.91+113T>C XM_006711386.5:c.91+113T>A
PKLR transcript variant X3 XM_011509640.4:c.91+113= XM_011509640.4:c.91+113T>C XM_011509640.4:c.91+113T>A
PKLR transcript variant X5 XM_017001493.1:c.283+113= XM_017001493.1:c.283+113T>C XM_017001493.1:c.283+113T>A
PKLR transcript variant X1 XM_047422591.1:c.283+113= XM_047422591.1:c.283+113T>C XM_047422591.1:c.283+113T>A
PKLR transcript variant X2 XM_047422592.1:c.283+113= XM_047422592.1:c.283+113T>C XM_047422592.1:c.283+113T>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#.

103 SubSNP, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4249207 Nov 05, 2001 (101)
2 EGP_SNPS ss9805971 Aug 26, 2003 (117)
3 SSAHASNP ss20458559 Apr 05, 2004 (121)
4 ABI ss44108091 Mar 14, 2006 (126)
5 HGSV ss79942047 Dec 14, 2007 (130)
6 HGSV ss85427708 Dec 14, 2007 (130)
7 HUMANGENOME_JCVI ss97975159 Feb 04, 2009 (130)
8 BGI ss102786074 Dec 01, 2009 (131)
9 1000GENOMES ss108602694 Jan 23, 2009 (130)
10 1000GENOMES ss111160388 Jan 25, 2009 (130)
11 ILLUMINA-UK ss119034566 Feb 15, 2009 (130)
12 ENSEMBL ss139209274 Dec 01, 2009 (131)
13 GMI ss155758429 Dec 01, 2009 (131)
14 ILLUMINA ss160607365 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss165228187 Jul 04, 2010 (132)
16 BUSHMAN ss199091599 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss205362280 Jul 04, 2010 (132)
18 1000GENOMES ss218653213 Jul 14, 2010 (132)
19 1000GENOMES ss230733443 Jul 14, 2010 (132)
20 1000GENOMES ss238380899 Jul 15, 2010 (132)
21 GMI ss276052614 May 04, 2012 (137)
22 PJP ss290637938 May 09, 2011 (134)
23 ILLUMINA ss480743168 May 04, 2012 (137)
24 ILLUMINA ss480759000 May 04, 2012 (137)
25 ILLUMINA ss481643905 Sep 08, 2015 (146)
26 ILLUMINA ss485166338 May 04, 2012 (137)
27 ILLUMINA ss537158121 Sep 08, 2015 (146)
28 SSMP ss648416623 Apr 25, 2013 (138)
29 ILLUMINA ss780674364 Sep 08, 2015 (146)
30 ILLUMINA ss783029396 Sep 08, 2015 (146)
31 ILLUMINA ss783989141 Sep 08, 2015 (146)
32 ILLUMINA ss832287004 Sep 08, 2015 (146)
33 ILLUMINA ss836170620 Sep 08, 2015 (146)
34 EVA-GONL ss975686948 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1068272321 Aug 21, 2014 (142)
36 1000GENOMES ss1292943821 Aug 21, 2014 (142)
37 EVA_GENOME_DK ss1574394586 Apr 01, 2015 (144)
38 EVA_DECODE ss1585068674 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1601223462 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1644217495 Apr 01, 2015 (144)
41 EVA_MGP ss1710926018 Apr 01, 2015 (144)
42 HAMMER_LAB ss1795098334 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1918920750 Feb 12, 2016 (147)
44 ILLUMINA ss1958318642 Feb 12, 2016 (147)
45 GENOMED ss1966868350 Jul 19, 2016 (147)
46 JJLAB ss2019975820 Sep 14, 2016 (149)
47 ILLUMINA ss2094848963 Dec 20, 2016 (150)
48 USC_VALOUEV ss2148000727 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2166579927 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2624495883 Nov 08, 2017 (151)
51 GRF ss2697973551 Nov 08, 2017 (151)
52 GNOMAD ss2761371104 Nov 08, 2017 (151)
53 SWEGEN ss2987759426 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3023745097 Nov 08, 2017 (151)
55 CSHL ss3343712436 Nov 08, 2017 (151)
56 ILLUMINA ss3626209931 Oct 11, 2018 (152)
57 ILLUMINA ss3630609658 Oct 11, 2018 (152)
58 ILLUMINA ss3632910236 Oct 11, 2018 (152)
59 ILLUMINA ss3633605585 Oct 11, 2018 (152)
60 ILLUMINA ss3635299028 Oct 11, 2018 (152)
61 ILLUMINA ss3636029815 Oct 11, 2018 (152)
62 OMUKHERJEE_ADBS ss3646246306 Oct 11, 2018 (152)
63 URBANLAB ss3646792210 Oct 11, 2018 (152)
64 EGCUT_WGS ss3655699704 Jul 12, 2019 (153)
65 EVA_DECODE ss3687791747 Jul 12, 2019 (153)
66 ACPOP ss3727489241 Jul 12, 2019 (153)
67 EVA ss3746813679 Jul 12, 2019 (153)
68 PACBIO ss3783567595 Jul 12, 2019 (153)
69 PACBIO ss3789198881 Jul 12, 2019 (153)
70 PACBIO ss3794070890 Jul 12, 2019 (153)
71 KHV_HUMAN_GENOMES ss3799814403 Jul 12, 2019 (153)
72 EVA ss3826426201 Apr 25, 2020 (154)
73 EVA ss3836607792 Apr 25, 2020 (154)
74 EVA ss3842017028 Apr 25, 2020 (154)
75 SGDP_PRJ ss3850015326 Apr 25, 2020 (154)
76 KRGDB ss3895224604 Apr 25, 2020 (154)
77 FSA-LAB ss3983947665 Apr 25, 2021 (155)
78 FSA-LAB ss3983947666 Apr 25, 2021 (155)
79 EVA ss3984464868 Apr 25, 2021 (155)
80 EVA ss3986139728 Apr 25, 2021 (155)
81 EVA ss4016938417 Apr 25, 2021 (155)
82 VINODS ss4019438143 Apr 25, 2021 (155)
83 TOPMED ss4468474907 Apr 25, 2021 (155)
84 TOMMO_GENOMICS ss5146506157 Apr 25, 2021 (155)
85 EVA ss5237164034 Apr 25, 2021 (155)
86 1000G_HIGH_COVERAGE ss5244308554 Oct 17, 2022 (156)
87 EVA ss5314651406 Oct 17, 2022 (156)
88 HUGCELL_USP ss5444900238 Oct 17, 2022 (156)
89 EVA ss5506030038 Oct 17, 2022 (156)
90 1000G_HIGH_COVERAGE ss5517645059 Oct 17, 2022 (156)
91 EVA ss5623997947 Oct 17, 2022 (156)
92 SANFORD_IMAGENETICS ss5626599791 Oct 17, 2022 (156)
93 TOMMO_GENOMICS ss5673709504 Oct 17, 2022 (156)
94 EVA ss5799498999 Oct 17, 2022 (156)
95 EVA ss5800085878 Oct 17, 2022 (156)
96 YY_MCH ss5801263869 Oct 17, 2022 (156)
97 EVA ss5832671441 Oct 17, 2022 (156)
98 EVA ss5848273155 Oct 17, 2022 (156)
99 EVA ss5849110352 Oct 17, 2022 (156)
100 EVA ss5910263325 Oct 17, 2022 (156)
101 EVA ss5936512311 Oct 17, 2022 (156)
102 EVA ss5938394081 Oct 17, 2022 (156)
103 EVA ss5981197510 Oct 17, 2022 (156)
104 1000Genomes NC_000001.10 - 155269776 Oct 11, 2018 (152)
105 1000Genomes_30x NC_000001.11 - 155299985 Oct 17, 2022 (156)
106 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 155269776 Oct 11, 2018 (152)
107 Genetic variation in the Estonian population NC_000001.10 - 155269776 Oct 11, 2018 (152)
108 The Danish reference pan genome NC_000001.10 - 155269776 Apr 25, 2020 (154)
109 gnomAD - Genomes NC_000001.11 - 155299985 Apr 25, 2021 (155)
110 Genome of the Netherlands Release 5 NC_000001.10 - 155269776 Apr 25, 2020 (154)
111 HapMap NC_000001.11 - 155299985 Apr 25, 2020 (154)
112 KOREAN population from KRGDB NC_000001.10 - 155269776 Apr 25, 2020 (154)
113 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 155269776 Apr 25, 2020 (154)
114 Northern Sweden NC_000001.10 - 155269776 Jul 12, 2019 (153)
115 CNV burdens in cranial meningiomas NC_000001.10 - 155269776 Apr 25, 2021 (155)
116 Qatari NC_000001.10 - 155269776 Apr 25, 2020 (154)
117 SGDP_PRJ NC_000001.10 - 155269776 Apr 25, 2020 (154)
118 Siberian NC_000001.10 - 155269776 Apr 25, 2020 (154)
119 8.3KJPN NC_000001.10 - 155269776 Apr 25, 2021 (155)
120 14KJPN NC_000001.11 - 155299985 Oct 17, 2022 (156)
121 TopMed NC_000001.11 - 155299985 Apr 25, 2021 (155)
122 UK 10K study - Twins NC_000001.10 - 155269776 Oct 11, 2018 (152)
123 A Vietnamese Genetic Variation Database NC_000001.10 - 155269776 Jul 12, 2019 (153)
124 ALFA NC_000001.11 - 155299985 Apr 25, 2021 (155)
125 ClinVar RCV001635543.3 Oct 17, 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).

Associated ID History Updated (Build)
rs57506287 May 23, 2008 (130)
rs386578630 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss79942047, ss85427708 NC_000001.8:152082848:A:G NC_000001.11:155299984:A:G (self)
ss108602694, ss111160388, ss119034566, ss165228187, ss199091599, ss205362280, ss276052614, ss290637938, ss480743168, ss1585068674, ss2094848963 NC_000001.9:153536399:A:G NC_000001.11:155299984:A:G (self)
3736457, 2031657, 1437952, 1710152, 882264, 2401998, 42770, 774106, 14183, 962680, 2032306, 517081, 4475464, 2031657, 436295, ss218653213, ss230733443, ss238380899, ss480759000, ss481643905, ss485166338, ss537158121, ss648416623, ss780674364, ss783029396, ss783989141, ss832287004, ss836170620, ss975686948, ss1068272321, ss1292943821, ss1574394586, ss1601223462, ss1644217495, ss1710926018, ss1795098334, ss1918920750, ss1958318642, ss1966868350, ss2019975820, ss2148000727, ss2624495883, ss2697973551, ss2761371104, ss2987759426, ss3343712436, ss3626209931, ss3630609658, ss3632910236, ss3633605585, ss3635299028, ss3636029815, ss3646246306, ss3655699704, ss3727489241, ss3746813679, ss3783567595, ss3789198881, ss3794070890, ss3826426201, ss3836607792, ss3850015326, ss3895224604, ss3983947665, ss3983947666, ss3984464868, ss3986139728, ss4016938417, ss5146506157, ss5314651406, ss5506030038, ss5623997947, ss5626599791, ss5799498999, ss5800085878, ss5832671441, ss5848273155, ss5936512311, ss5938394081, ss5981197510 NC_000001.10:155269775:A:G NC_000001.11:155299984:A:G (self)
RCV001635543.3, 5170994, 27194248, 177344, 7546608, 32081242, 4709249666, ss2166579927, ss3023745097, ss3646792210, ss3687791747, ss3799814403, ss3842017028, ss4468474907, ss5237164034, ss5244308554, ss5444900238, ss5517645059, ss5673709504, ss5801263869, ss5849110352, ss5910263325 NC_000001.11:155299984:A:G NC_000001.11:155299984:A:G (self)
ss4249207, ss9805971, ss44108091, ss97975159, ss102786074, ss139209274, ss155758429, ss160607365 NT_004487.19:6758417:A:G NC_000001.11:155299984:A:G (self)
ss20458559 NT_079484.1:1719607:A:G NC_000001.11:155299984:A:G (self)
ss4019438143 NW_003315906.1:105007:A:G NC_000001.11:155299984:A:G (self)
2401998, ss3895224604 NC_000001.10:155269775:A:T NC_000001.11:155299984: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.

2 citations for rs3020781
PMID Title Author Year Journal
19111066 Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits. Andreasen CH et al. 2008 BMC medical genetics
26658699 Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population. van Bruggen R et al. 2015 PloS one
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
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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