Name: rs2071053
Published: September 21, 2022
License: Open Access

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.

rs2071053

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:155295386 (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>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.405459 (107321/264690, TOPMED)
A=0.25271 (7140/28254, 14KJPN)
G=0.21831 (4781/21900, ALFA) (+ 17 more)
A=0.25304 (4240/16756, 8.3KJPN)
G=0.36505 (4696/12864, GO-ESP)
G=0.4752 (3043/6404, 1000G_30x)
G=0.4790 (2399/5008, 1000G)
G=0.2540 (1138/4480, Estonian)
G=0.2600 (1002/3854, ALSPAC)
G=0.2567 (952/3708, TWINSUK)
A=0.2180 (638/2926, KOREAN)
G=0.251 (250/998, GoNL)
A=0.485 (295/608, Vietnamese)
G=0.293 (176/600, NorthernSweden)
G=0.021 (11/534, MGP)
A=0.313 (122/390, SGDP_PRJ)
G=0.297 (89/300, FINRISK)
G=0.259 (56/216, Qatari)
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	21900	A=0.78169	G=0.21831, T=0.00000
European	Sub	17230	A=0.79925	G=0.20075, T=0.00000
African	Sub	1580	A=0.6146	G=0.3854, T=0.0000
African Others	Sub	48	A=0.50	G=0.50, T=0.00
African American	Sub	1532	A=0.6181	G=0.3819, T=0.0000
Asian	Sub	70	A=0.47	G=0.53, T=0.00
East Asian	Sub	32	A=0.41	G=0.59, T=0.00
Other Asian	Sub	38	A=0.53	G=0.47, T=0.00
Latin American 1	Sub	54	A=1.00	G=0.00, T=0.00
Latin American 2	Sub	230	A=1.000	G=0.000, T=0.000
South Asian	Sub	64	A=0.98	G=0.02, T=0.00
Other	Sub	2672	A=0.7474	G=0.2526, T=0.0000

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.594541	G=0.405459
14KJPN	JAPANESE	Study-wide	28254	A=0.25271	G=0.74729
Allele Frequency Aggregator	Total	Global	21900	A=0.78169	G=0.21831, T=0.00000
Allele Frequency Aggregator	European	Sub	17230	A=0.79925	G=0.20075, T=0.00000
Allele Frequency Aggregator	Other	Sub	2672	A=0.7474	G=0.2526, T=0.0000
Allele Frequency Aggregator	African	Sub	1580	A=0.6146	G=0.3854, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	230	A=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	70	A=0.47	G=0.53, T=0.00
Allele Frequency Aggregator	South Asian	Sub	64	A=0.98	G=0.02, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	54	A=1.00	G=0.00, T=0.00
8.3KJPN	JAPANESE	Study-wide	16756	A=0.25304	G=0.74696
GO Exome Sequencing Project	Global	Study-wide	12864	A=0.63495	G=0.36505
GO Exome Sequencing Project	European American	Sub	8540	A=0.7406	G=0.2594
GO Exome Sequencing Project	African American	Sub	4324	A=0.4262	G=0.5738
1000Genomes_30x	Global	Study-wide	6404	A=0.5248	G=0.4752
1000Genomes_30x	African	Sub	1786	A=0.3802	G=0.6198
1000Genomes_30x	Europe	Sub	1266	A=0.7196	G=0.2804
1000Genomes_30x	South Asian	Sub	1202	A=0.6381	G=0.3619
1000Genomes_30x	East Asian	Sub	1170	A=0.3068	G=0.6932
1000Genomes_30x	American	Sub	980	A=0.658	G=0.342
1000Genomes	Global	Study-wide	5008	A=0.5210	G=0.4790
1000Genomes	African	Sub	1322	A=0.3707	G=0.6293
1000Genomes	East Asian	Sub	1008	A=0.3095	G=0.6905
1000Genomes	Europe	Sub	1006	A=0.7167	G=0.2833
1000Genomes	South Asian	Sub	978	A=0.644	G=0.356
1000Genomes	American	Sub	694	A=0.657	G=0.343
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7460	G=0.2540
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7400	G=0.2600
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7433	G=0.2567
KOREAN population from KRGDB	KOREAN	Study-wide	2926	A=0.2180	G=0.7820, T=0.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.749	G=0.251
A Vietnamese Genetic Variation Database	Global	Study-wide	608	A=0.485	G=0.515
Northern Sweden	ACPOP	Study-wide	600	A=0.707	G=0.293
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.979	G=0.021
SGDP_PRJ	Global	Study-wide	390	A=0.313	G=0.687
FINRISK	Finnish from FINRISK project	Study-wide	300	A=0.703	G=0.297
Qatari	Global	Study-wide	216	A=0.741	G=0.259
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

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.155295386A>C
GRCh38.p14 chr 1	NC_000001.11:g.155295386A>G
GRCh38.p14 chr 1	NC_000001.11:g.155295386A>T
GRCh37.p13 chr 1	NC_000001.10:g.155265177A>C
GRCh37.p13 chr 1	NC_000001.10:g.155265177A>G
GRCh37.p13 chr 1	NC_000001.10:g.155265177A>T
PKLR RefSeqGene (LRG_1136)	NG_011677.1:g.11049T>G
PKLR RefSeqGene (LRG_1136)	NG_011677.1:g.11049T>C
PKLR RefSeqGene (LRG_1136)	NG_011677.1:g.11049T>A
GRCh38.p14 chr 1 alt locus HSCHR1_2_CTG31	NW_003315906.1:g.100409A>C
GRCh38.p14 chr 1 alt locus HSCHR1_2_CTG31	NW_003315906.1:g.100409A>G
GRCh38.p14 chr 1 alt locus HSCHR1_2_CTG31	NW_003315906.1:g.100409A>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.507+51T>G	N/A	Intron Variant
PKLR transcript variant 2	NM_181871.4:c.414+51T>G	N/A	Intron Variant
PKLR transcript variant X4	XM_006711386.5:c.315+51T>G	N/A	Intron Variant
PKLR transcript variant X3	XM_011509640.4:c.315+51T>G	N/A	Intron Variant
PKLR transcript variant X5	XM_017001493.1:c.507+51T>G	N/A	Intron Variant
PKLR transcript variant X1	XM_047422591.1:c.507+51T>G	N/A	Intron Variant
PKLR transcript variant X2	XM_047422592.1:c.507+51T>G	N/A	Intron Variant

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: 1269966 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001695253.1	not provided	Benign

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.p14 chr 1	NC_000001.11:g.155295386=	NC_000001.11:g.155295386A>C	NC_000001.11:g.155295386A>G	NC_000001.11:g.155295386A>T
GRCh37.p13 chr 1	NC_000001.10:g.155265177=	NC_000001.10:g.155265177A>C	NC_000001.10:g.155265177A>G	NC_000001.10:g.155265177A>T
PKLR RefSeqGene (LRG_1136)	NG_011677.1:g.11049=	NG_011677.1:g.11049T>G	NG_011677.1:g.11049T>C	NG_011677.1:g.11049T>A
GRCh38.p14 chr 1 alt locus HSCHR1_2_CTG31	NW_003315906.1:g.100409=	NW_003315906.1:g.100409A>C	NW_003315906.1:g.100409A>G	NW_003315906.1:g.100409A>T
PKLR transcript variant 1	NM_000298.5:c.507+51=	NM_000298.5:c.507+51T>G	NM_000298.5:c.507+51T>C	NM_000298.5:c.507+51T>A
PKLR transcript variant 1	NM_000298.6:c.507+51=	NM_000298.6:c.507+51T>G	NM_000298.6:c.507+51T>C	NM_000298.6:c.507+51T>A
PKLR transcript variant 2	NM_181871.3:c.414+51=	NM_181871.3:c.414+51T>G	NM_181871.3:c.414+51T>C	NM_181871.3:c.414+51T>A
PKLR transcript variant 2	NM_181871.4:c.414+51=	NM_181871.4:c.414+51T>G	NM_181871.4:c.414+51T>C	NM_181871.4:c.414+51T>A
PKLR transcript variant X1	XM_005245266.1:c.666+51=	XM_005245266.1:c.666+51T>G	XM_005245266.1:c.666+51T>C	XM_005245266.1:c.666+51T>A
PKLR transcript variant X4	XM_006711386.5:c.315+51=	XM_006711386.5:c.315+51T>G	XM_006711386.5:c.315+51T>C	XM_006711386.5:c.315+51T>A
PKLR transcript variant X3	XM_011509640.4:c.315+51=	XM_011509640.4:c.315+51T>G	XM_011509640.4:c.315+51T>C	XM_011509640.4:c.315+51T>A
PKLR transcript variant X5	XM_017001493.1:c.507+51=	XM_017001493.1:c.507+51T>G	XM_017001493.1:c.507+51T>C	XM_017001493.1:c.507+51T>A
PKLR transcript variant X1	XM_047422591.1:c.507+51=	XM_047422591.1:c.507+51T>G	XM_047422591.1:c.507+51T>C	XM_047422591.1:c.507+51T>A
PKLR transcript variant X2	XM_047422592.1:c.507+51=	XM_047422592.1:c.507+51T>G	XM_047422592.1:c.507+51T>C	XM_047422592.1:c.507+51T>A

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#.

93 SubSNP, 28 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss2984542	Jun 15, 2001 (96)
2	HGBASE	ss3186148	Aug 15, 2001 (98)
3	EGP_SNPS	ss9805980	Aug 26, 2003 (117)
4	CSHL-HAPMAP	ss17331970	Feb 27, 2004 (120)
5	SSAHASNP	ss20533866	Apr 05, 2004 (121)
6	ABI	ss43999550	Mar 13, 2006 (126)
7	HUMANGENOME_JCVI	ss97975154	Feb 06, 2009 (130)
8	BGI	ss102786071	Dec 01, 2009 (131)
9	ILLUMINA-UK	ss119034554	Feb 15, 2009 (130)
10	ENSEMBL	ss139209293	Dec 01, 2009 (131)
11	GMI	ss155758400	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss164128652	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss165228151	Jul 04, 2010 (132)
14	BUSHMAN	ss199091557	Jul 04, 2010 (132)
15	1000GENOMES	ss210642500	Jul 14, 2010 (132)
16	1000GENOMES	ss218653201	Jul 14, 2010 (132)
17	1000GENOMES	ss230733440	Jul 14, 2010 (132)
18	1000GENOMES	ss238380898	Jul 15, 2010 (132)
19	GMI	ss276052603	May 04, 2012 (137)
20	PJP	ss290637931	May 09, 2011 (134)
21	CLINSEQ_SNP	ss491605522	May 04, 2012 (137)
22	TISHKOFF	ss554701317	Apr 25, 2013 (138)
23	SSMP	ss648416604	Apr 25, 2013 (138)
24	NHLBI-ESP	ss712338324	Apr 25, 2013 (138)
25	EVA-GONL	ss975686911	Aug 21, 2014 (142)
26	JMKIDD_LAB	ss1067426662	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1068272301	Aug 21, 2014 (142)
28	1000GENOMES	ss1292943698	Aug 21, 2014 (142)
29	EVA_GENOME_DK	ss1574394577	Apr 01, 2015 (144)
30	EVA_FINRISK	ss1584011526	Apr 01, 2015 (144)
31	EVA_DECODE	ss1585068641	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1601223397	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1644217430	Apr 01, 2015 (144)
34	EVA_EXAC	ss1685818404	Apr 01, 2015 (144)
35	EVA_EXAC	ss1685818405	Apr 01, 2015 (144)
36	EVA_EXAC	ss1685818406	Apr 01, 2015 (144)
37	EVA_MGP	ss1710926015	Apr 01, 2015 (144)
38	HAMMER_LAB	ss1795098296	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1918920714	Feb 12, 2016 (147)
40	JJLAB	ss2019975808	Sep 14, 2016 (149)
41	USC_VALOUEV	ss2148000711	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2166579685	Dec 20, 2016 (150)
43	SYSTEMSBIOZJU	ss2624495880	Nov 08, 2017 (151)
44	GRF	ss2697973527	Nov 08, 2017 (151)
45	GNOMAD	ss2731912819	Nov 08, 2017 (151)
46	GNOMAD	ss2746456482	Nov 08, 2017 (151)
47	GNOMAD	ss2761370676	Nov 08, 2017 (151)
48	SWEGEN	ss2987759370	Nov 08, 2017 (151)
49	BIOINF_KMB_FNS_UNIBA	ss3023745094	Nov 08, 2017 (151)
50	CSHL	ss3343712419	Nov 08, 2017 (151)
51	OMUKHERJEE_ADBS	ss3646246304	Oct 11, 2018 (152)
52	URBANLAB	ss3646792200	Oct 11, 2018 (152)
53	EGCUT_WGS	ss3655699649	Jul 12, 2019 (153)
54	EVA_DECODE	ss3687791652	Jul 12, 2019 (153)
55	ACPOP	ss3727489182	Jul 12, 2019 (153)
56	EVA	ss3746813642	Jul 12, 2019 (153)
57	PACBIO	ss3783567581	Jul 12, 2019 (153)
58	PACBIO	ss3789198872	Jul 12, 2019 (153)
59	PACBIO	ss3794070882	Jul 12, 2019 (153)
60	KHV_HUMAN_GENOMES	ss3799814381	Jul 12, 2019 (153)
61	EVA	ss3823665613	Apr 25, 2020 (154)
62	EVA	ss3825576257	Apr 25, 2020 (154)
63	EVA	ss3826426189	Apr 25, 2020 (154)
64	EVA	ss3836607785	Apr 25, 2020 (154)
65	EVA	ss3842017023	Apr 25, 2020 (154)
66	SGDP_PRJ	ss3850015240	Apr 25, 2020 (154)
67	KRGDB	ss3895224491	Apr 25, 2020 (154)
68	FSA-LAB	ss3983947661	Apr 25, 2021 (155)
69	FSA-LAB	ss3983947662	Apr 25, 2021 (155)
70	EVA	ss3986139722	Apr 25, 2021 (155)
71	VINODS	ss4019438134	Apr 25, 2021 (155)
72	TOPMED	ss4468473713	Apr 25, 2021 (155)
73	TOMMO_GENOMICS	ss5146505872	Apr 25, 2021 (155)
74	EVA	ss5237164033	Apr 25, 2021 (155)
75	1000G_HIGH_COVERAGE	ss5244308421	Oct 17, 2022 (156)
76	EVA	ss5322079772	Oct 17, 2022 (156)
77	HUGCELL_USP	ss5444900104	Oct 17, 2022 (156)
78	EVA	ss5506030023	Oct 17, 2022 (156)
79	1000G_HIGH_COVERAGE	ss5517644905	Oct 17, 2022 (156)
80	EVA	ss5623916606	Oct 17, 2022 (156)
81	EVA	ss5623997946	Oct 17, 2022 (156)
82	SANFORD_IMAGENETICS	ss5626599717	Oct 17, 2022 (156)
83	TOMMO_GENOMICS	ss5673709154	Oct 17, 2022 (156)
84	EVA	ss5800046901	Oct 17, 2022 (156)
85	EVA	ss5800085877	Oct 17, 2022 (156)
86	YY_MCH	ss5801263825	Oct 17, 2022 (156)
87	EVA	ss5832671392	Oct 17, 2022 (156)
88	EVA	ss5848273151	Oct 17, 2022 (156)
89	EVA	ss5849110345	Oct 17, 2022 (156)
90	EVA	ss5910263205	Oct 17, 2022 (156)
91	EVA	ss5936512310	Oct 17, 2022 (156)
92	EVA	ss5938394019	Oct 17, 2022 (156)
93	EVA	ss5981197509	Oct 17, 2022 (156)
94	1000Genomes	NC_000001.10 - 155265177	Oct 11, 2018 (152)
95	1000Genomes_30x	NC_000001.11 - 155295386	Oct 17, 2022 (156)
96	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 155265177	Oct 11, 2018 (152)
97	Genetic variation in the Estonian population	NC_000001.10 - 155265177	Oct 11, 2018 (152)
98	ExAC Submission ignored due to conflicting rows: Row 5037953 (NC_000001.10:155265176:A:A 70894/109362, NC_000001.10:155265176:A:G 38468/109362) Row 5037954 (NC_000001.10:155265176:A:A 109361/109362, NC_000001.10:155265176:A:C 1/109362) Row 5037955 (NC_000001.10:155265176:A:A 109361/109362, NC_000001.10:155265176:A:T 1/109362)	-	Oct 11, 2018 (152)
99	ExAC Submission ignored due to conflicting rows: Row 5037953 (NC_000001.10:155265176:A:A 70894/109362, NC_000001.10:155265176:A:G 38468/109362) Row 5037954 (NC_000001.10:155265176:A:A 109361/109362, NC_000001.10:155265176:A:C 1/109362) Row 5037955 (NC_000001.10:155265176:A:A 109361/109362, NC_000001.10:155265176:A:T 1/109362)	-	Oct 11, 2018 (152)
100	ExAC Submission ignored due to conflicting rows: Row 5037953 (NC_000001.10:155265176:A:A 70894/109362, NC_000001.10:155265176:A:G 38468/109362) Row 5037954 (NC_000001.10:155265176:A:A 109361/109362, NC_000001.10:155265176:A:C 1/109362) Row 5037955 (NC_000001.10:155265176:A:A 109361/109362, NC_000001.10:155265176:A:T 1/109362)	-	Oct 11, 2018 (152)
101	FINRISK	NC_000001.10 - 155265177	Apr 25, 2020 (154)
102	The Danish reference pan genome	NC_000001.10 - 155265177	Apr 25, 2020 (154)
103	gnomAD - Genomes Submission ignored due to conflicting rows: Row 27192903 (NC_000001.11:155295385:A:G 54640/139998) Row 27192904 (NC_000001.11:155295385:A:T 1/140032)	-	Apr 25, 2021 (155)
104	gnomAD - Genomes Submission ignored due to conflicting rows: Row 27192903 (NC_000001.11:155295385:A:G 54640/139998) Row 27192904 (NC_000001.11:155295385:A:T 1/140032)	-	Apr 25, 2021 (155)
105	gnomAD - Exomes Submission ignored due to conflicting rows: Row 935954 (NC_000001.10:155265176:A:A 240091/240092, NC_000001.10:155265176:A:C 1/240092) Row 935955 (NC_000001.10:155265176:A:A 156571/240092, NC_000001.10:155265176:A:G 83521/240092) Row 935956 (NC_000001.10:155265176:A:A 240091/240092, NC_000001.10:155265176:A:T 1/240092)	-	Jul 12, 2019 (153)
106	gnomAD - Exomes Submission ignored due to conflicting rows: Row 935954 (NC_000001.10:155265176:A:A 240091/240092, NC_000001.10:155265176:A:C 1/240092) Row 935955 (NC_000001.10:155265176:A:A 156571/240092, NC_000001.10:155265176:A:G 83521/240092) Row 935956 (NC_000001.10:155265176:A:A 240091/240092, NC_000001.10:155265176:A:T 1/240092)	-	Jul 12, 2019 (153)
107	gnomAD - Exomes Submission ignored due to conflicting rows: Row 935954 (NC_000001.10:155265176:A:A 240091/240092, NC_000001.10:155265176:A:C 1/240092) Row 935955 (NC_000001.10:155265176:A:A 156571/240092, NC_000001.10:155265176:A:G 83521/240092) Row 935956 (NC_000001.10:155265176:A:A 240091/240092, NC_000001.10:155265176:A:T 1/240092)	-	Jul 12, 2019 (153)
108	GO Exome Sequencing Project	NC_000001.10 - 155265177	Oct 11, 2018 (152)
109	Genome of the Netherlands Release 5	NC_000001.10 - 155265177	Apr 25, 2020 (154)
110	KOREAN population from KRGDB	NC_000001.10 - 155265177	Apr 25, 2020 (154)
111	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 155265177	Apr 25, 2020 (154)
112	Northern Sweden	NC_000001.10 - 155265177	Jul 12, 2019 (153)
113	Qatari	NC_000001.10 - 155265177	Apr 25, 2020 (154)
114	SGDP_PRJ	NC_000001.10 - 155265177	Apr 25, 2020 (154)
115	Siberian	NC_000001.10 - 155265177	Apr 25, 2020 (154)
116	8.3KJPN	NC_000001.10 - 155265177	Apr 25, 2021 (155)
117	14KJPN	NC_000001.11 - 155295386	Oct 17, 2022 (156)
118	TopMed	NC_000001.11 - 155295386	Apr 25, 2021 (155)
119	UK 10K study - Twins	NC_000001.10 - 155265177	Oct 11, 2018 (152)
120	A Vietnamese Genetic Variation Database	NC_000001.10 - 155265177	Jul 12, 2019 (153)
121	ALFA	NC_000001.11 - 155295386	Apr 25, 2021 (155)
122	ClinVar	RCV001695253.1	Oct 17, 2022 (156)

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
ss1685818405, ss2731912819	NC_000001.10:155265176:A:C	NC_000001.11:155295385:A:C	(self)
ss119034554, ss164128652, ss165228151, ss199091557, ss210642500, ss276052603, ss290637931, ss491605522, ss1585068641	NC_000001.9:153531800:A:G	NC_000001.11:155295385:A:G	(self)
3736330, 2031584, 1437897, 7987, 1710143, 124199, 882227, 2401885, 42767, 774047, 962644, 2032220, 517065, 4475179, 2031584, 436289, ss218653201, ss230733440, ss238380898, ss554701317, ss648416604, ss712338324, ss975686911, ss1067426662, ss1068272301, ss1292943698, ss1574394577, ss1584011526, ss1601223397, ss1644217430, ss1685818404, ss1710926015, ss1795098296, ss1918920714, ss2019975808, ss2148000711, ss2624495880, ss2697973527, ss2731912819, ss2746456482, ss2761370676, ss2987759370, ss3343712419, ss3646246304, ss3655699649, ss3727489182, ss3746813642, ss3783567581, ss3789198872, ss3794070882, ss3823665613, ss3825576257, ss3826426189, ss3836607785, ss3850015240, ss3895224491, ss3983947661, ss3983947662, ss3986139722, ss5146505872, ss5322079772, ss5506030023, ss5623916606, ss5623997946, ss5626599717, ss5800046901, ss5800085877, ss5832671392, ss5848273151, ss5936512310, ss5938394019, ss5981197509	NC_000001.10:155265176:A:G	NC_000001.11:155295385:A:G	(self)
RCV001695253.1, 5170840, 7546258, 32080048, 5549267829, ss2166579685, ss3023745094, ss3646792200, ss3687791652, ss3799814381, ss3842017023, ss4468473713, ss5237164033, ss5244308421, ss5444900104, ss5517644905, ss5673709154, ss5801263825, ss5849110345, ss5910263205	NC_000001.11:155295385:A:G	NC_000001.11:155295385:A:G	(self)
ss2984542, ss3186148, ss9805980, ss43999550, ss97975154, ss102786071, ss139209293, ss155758400	NT_004487.19:6753818:A:G	NC_000001.11:155295385:A:G	(self)
ss17331970, ss20533866	NT_079484.1:1715008:A:G	NC_000001.11:155295385:A:G	(self)
ss4019438134	NW_003315906.1:100408:A:G	NC_000001.11:155295385:A:G	(self)
2401885, ss1685818406, ss2731912819, ss3895224491	NC_000001.10:155265176:A:T	NC_000001.11:155295385:A:T	(self)
5549267829	NC_000001.11:155295385:A:T	NC_000001.11:155295385:A:T	(self)

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

2 citations for rs2071053

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

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2071053