Name: rs11568364
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.

rs11568364

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:168968473 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.064332 (17028/264690, TOPMED)
C=0.023637 (5830/246646, GnomAD_exome)
C=0.022253 (4329/194536, ALFA) (+ 19 more)
C=0.062014 (8680/139968, GnomAD)
C=0.029669 (3188/107452, ExAC)
C=0.08640 (6799/78688, PAGE_STUDY)
C=0.06498 (783/12050, GO-ESP)
C=0.0618 (396/6404, 1000G_30x)
C=0.0571 (286/5008, 1000G)
C=0.0083 (37/4480, Estonian)
C=0.0145 (56/3854, ALSPAC)
C=0.0159 (59/3708, TWINSUK)
C=0.1125 (155/1378, HapMap)
C=0.0211 (24/1136, Daghestan)
C=0.014 (14/998, GoNL)
C=0.066 (56/850, PharmGKB)
C=0.018 (11/626, Chileans)
C=0.007 (4/600, NorthernSweden)
C=0.026 (14/534, MGP)
C=0.003 (1/304, FINRISK)
C=0.051 (11/216, Qatari)
T=0.44 (15/34, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ABCB11 : Missense 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	210850	T=0.974617	C=0.025383
European	Sub	169354	T=0.982451	C=0.017549
African	Sub	10786	T=0.83367	C=0.16633
African Others	Sub	370	T=0.784	C=0.216
African American	Sub	10416	T=0.83545	C=0.16455
Asian	Sub	6422	T=0.9997	C=0.0003
East Asian	Sub	4540	T=0.9998	C=0.0002
Other Asian	Sub	1882	T=0.9995	C=0.0005
Latin American 1	Sub	946	T=0.949	C=0.051
Latin American 2	Sub	5104	T=0.9832	C=0.0168
South Asian	Sub	310	T=0.974	C=0.026
Other	Sub	17928	T=0.97535	C=0.02465

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	T=0.935668	C=0.064332
gnomAD - Exomes	Global	Study-wide	246646	T=0.976363	C=0.023637
gnomAD - Exomes	European	Sub	133098	T=0.984590	C=0.015410
gnomAD - Exomes	Asian	Sub	48062	T=0.99286	C=0.00714
gnomAD - Exomes	American	Sub	34198	T=0.98365	C=0.01635
gnomAD - Exomes	African	Sub	15336	T=0.82994	C=0.17006
gnomAD - Exomes	Ashkenazi Jewish	Sub	9986	T=0.9862	C=0.0138
gnomAD - Exomes	Other	Sub	5966	T=0.9780	C=0.0220
Allele Frequency Aggregator	Total	Global	194536	T=0.977747	C=0.022253
Allele Frequency Aggregator	European	Sub	159310	T=0.982261	C=0.017739
Allele Frequency Aggregator	Other	Sub	16480	T=0.97694	C=0.02306
Allele Frequency Aggregator	Asian	Sub	6422	T=0.9997	C=0.0003
Allele Frequency Aggregator	African	Sub	5964	T=0.8358	C=0.1642
Allele Frequency Aggregator	Latin American 2	Sub	5104	T=0.9832	C=0.0168
Allele Frequency Aggregator	Latin American 1	Sub	946	T=0.949	C=0.051
Allele Frequency Aggregator	South Asian	Sub	310	T=0.974	C=0.026
gnomAD - Genomes	Global	Study-wide	139968	T=0.937986	C=0.062014
gnomAD - Genomes	European	Sub	75840	T=0.98399	C=0.01601
gnomAD - Genomes	African	Sub	41980	T=0.83633	C=0.16367
gnomAD - Genomes	American	Sub	13598	T=0.96764	C=0.03236
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.9846	C=0.0154
gnomAD - Genomes	East Asian	Sub	3084	T=1.0000	C=0.0000
gnomAD - Genomes	Other	Sub	2148	T=0.9516	C=0.0484
ExAC	Global	Study-wide	107452	T=0.970331	C=0.029669
ExAC	Europe	Sub	65908	T=0.98173	C=0.01827
ExAC	Asian	Sub	21756	T=0.99232	C=0.00768
ExAC	American	Sub	9890	T=0.9816	C=0.0184
ExAC	African	Sub	9106	T=0.8222	C=0.1778
ExAC	Other	Sub	792	T=0.980	C=0.020
The PAGE Study	Global	Study-wide	78688	T=0.91360	C=0.08640
The PAGE Study	AfricanAmerican	Sub	32510	T=0.83716	C=0.16284
The PAGE Study	Mexican	Sub	10810	T=0.98196	C=0.01804
The PAGE Study	Asian	Sub	8314	T=1.0000	C=0.0000
The PAGE Study	PuertoRican	Sub	7916	T=0.9253	C=0.0747
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9932	C=0.0068
The PAGE Study	Cuban	Sub	4230	T=0.9546	C=0.0454
The PAGE Study	Dominican	Sub	3826	T=0.9153	C=0.0847
The PAGE Study	CentralAmerican	Sub	2450	T=0.9710	C=0.0290
The PAGE Study	SouthAmerican	Sub	1982	T=0.9768	C=0.0232
The PAGE Study	NativeAmerican	Sub	1260	T=0.9595	C=0.0405
The PAGE Study	SouthAsian	Sub	856	T=0.995	C=0.005
GO Exome Sequencing Project	Global	Study-wide	12050	T=0.93502	C=0.06498
GO Exome Sequencing Project	European American	Sub	8268	T=0.9800	C=0.0200
GO Exome Sequencing Project	African American	Sub	3782	T=0.8366	C=0.1634
1000Genomes_30x	Global	Study-wide	6404	T=0.9382	C=0.0618
1000Genomes_30x	African	Sub	1786	T=0.8108	C=0.1892
1000Genomes_30x	Europe	Sub	1266	T=0.9850	C=0.0150
1000Genomes_30x	South Asian	Sub	1202	T=0.9933	C=0.0067
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.968	C=0.032
1000Genomes	Global	Study-wide	5008	T=0.9429	C=0.0571
1000Genomes	African	Sub	1322	T=0.8169	C=0.1831
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.9841	C=0.0159
1000Genomes	South Asian	Sub	978	T=0.995	C=0.005
1000Genomes	American	Sub	694	T=0.967	C=0.033
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9917	C=0.0083
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9855	C=0.0145
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9841	C=0.0159
HapMap	Global	Study-wide	1378	T=0.8875	C=0.1125
HapMap	African	Sub	692	T=0.814	C=0.186
HapMap	American	Sub	422	T=0.950	C=0.050
HapMap	Europe	Sub	176	T=0.972	C=0.028
HapMap	Asian	Sub	88	T=1.00	C=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.9789	C=0.0211
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.979	C=0.021
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.965	C=0.035
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.992	C=0.008
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.972	C=0.028
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.99	C=0.01
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.97	C=0.03
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.986	C=0.014
PharmGKB Aggregated	Global	Study-wide	850	T=0.934	C=0.066
PharmGKB Aggregated	PA129853410	Sub	494	T=0.913	C=0.087
PharmGKB Aggregated	PA150249127	Sub	356	T=0.963	C=0.037
Chileans	Chilean	Study-wide	626	T=0.982	C=0.018
Northern Sweden	ACPOP	Study-wide	600	T=0.993	C=0.007
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.974	C=0.026
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.997	C=0.003
Qatari	Global	Study-wide	216	T=0.949	C=0.051
SGDP_PRJ	Global	Study-wide	34	T=0.44	C=0.56

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 2	NC_000002.12:g.168968473T>C
GRCh37.p13 chr 2	NC_000002.11:g.169824983T>C
ABCB11 RefSeqGene (LRG_1199)	NG_007374.2:g.67924A>G

Gene: ABCB11, ATP binding cassette subfamily B member 11 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCB11 transcript	NM_003742.4:c.2029A>G	M [ATG] > V [GTG]	Coding Sequence Variant
bile salt export pump	NP_003733.2:p.Met677Val	M (Met) > V (Val)	Missense Variant
ABCB11 transcript variant X1	XM_011512078.3:c.2131A>G	M [ATG] > V [GTG]	Coding Sequence Variant
bile salt export pump isoform X1	XP_011510380.1:p.Met711Val	M (Met) > V (Val)	Missense Variant
ABCB11 transcript variant X2	XM_006712817.4:c.2071A>G	M [ATG] > V [GTG]	Coding Sequence Variant
bile salt export pump isoform X2	XP_006712880.1:p.Met691Val	M (Met) > V (Val)	Missense Variant
ABCB11 transcript variant X3	XM_017005165.2:c.2131A>G	M [ATG] > V [GTG]	Coding Sequence Variant
bile salt export pump isoform X3	XP_016860654.1:p.Met711Val	M (Met) > V (Val)	Missense Variant
ABCB11 transcript variant X4	XM_017005166.2:c.1360A>G	M [ATG] > V [GTG]	Coding Sequence Variant
bile salt export pump isoform X4	XP_016860655.1:p.Met454Val	M (Met) > V (Val)	Missense Variant
ABCB11 transcript variant X5	XM_011512080.3:c.2131A>G	M [ATG] > V [GTG]	Coding Sequence Variant
bile salt export pump isoform X5	XP_011510382.1:p.Met711Val	M (Met) > V (Val)	Missense Variant
ABCB11 transcript variant X6	XM_017005167.2:c.814A>G	M [ATG] > V [GTG]	Coding Sequence Variant
bile salt export pump isoform X6	XP_016860656.1:p.Met272Val	M (Met) > V (Val)	Missense 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: C (allele ID: 250362 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000251833.3	not specified	Benign-Likely-Benign
RCV000272956.4	Progressive familial intrahepatic cholestasis type 2	Benign
RCV001515639.4	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	T=	C
GRCh38.p14 chr 2	NC_000002.12:g.168968473=	NC_000002.12:g.168968473T>C
GRCh37.p13 chr 2	NC_000002.11:g.169824983=	NC_000002.11:g.169824983T>C
ABCB11 RefSeqGene (LRG_1199)	NG_007374.2:g.67924=	NG_007374.2:g.67924A>G
ABCB11 transcript	NM_003742.4:c.2029=	NM_003742.4:c.2029A>G
ABCB11 transcript	NM_003742.3:c.2029=	NM_003742.3:c.2029A>G
ABCB11 transcript	NM_003742.2:c.2029=	NM_003742.2:c.2029A>G
ABCB11 transcript variant X2	XM_006712817.4:c.2071=	XM_006712817.4:c.2071A>G
ABCB11 transcript variant X3	XM_006712817.3:c.2071=	XM_006712817.3:c.2071A>G
ABCB11 transcript variant X4	XM_006712817.2:c.2071=	XM_006712817.2:c.2071A>G
ABCB11 transcript variant X1	XM_006712817.1:c.2071=	XM_006712817.1:c.2071A>G
ABCB11 transcript variant X1	XM_011512078.3:c.2131=	XM_011512078.3:c.2131A>G
ABCB11 transcript variant X2	XM_011512078.2:c.2131=	XM_011512078.2:c.2131A>G
ABCB11 transcript variant X2	XM_011512078.1:c.2131=	XM_011512078.1:c.2131A>G
ABCB11 transcript variant X5	XM_011512080.3:c.2131=	XM_011512080.3:c.2131A>G
ABCB11 transcript variant X6	XM_011512080.2:c.2131=	XM_011512080.2:c.2131A>G
ABCB11 transcript variant X5	XM_011512080.1:c.2131=	XM_011512080.1:c.2131A>G
ABCB11 transcript variant X3	XM_017005165.2:c.2131=	XM_017005165.2:c.2131A>G
ABCB11 transcript variant X4	XM_017005165.1:c.2131=	XM_017005165.1:c.2131A>G
ABCB11 transcript variant X4	XM_017005166.2:c.1360=	XM_017005166.2:c.1360A>G
ABCB11 transcript variant X5	XM_017005166.1:c.1360=	XM_017005166.1:c.1360A>G
ABCB11 transcript variant X6	XM_017005167.2:c.814=	XM_017005167.2:c.814A>G
ABCB11 transcript variant X7	XM_017005167.1:c.814=	XM_017005167.1:c.814A>G
bile salt export pump	NP_003733.2:p.Met677=	NP_003733.2:p.Met677Val
bile salt export pump isoform X2	XP_006712880.1:p.Met691=	XP_006712880.1:p.Met691Val
bile salt export pump isoform X1	XP_011510380.1:p.Met711=	XP_011510380.1:p.Met711Val
bile salt export pump isoform X5	XP_011510382.1:p.Met711=	XP_011510382.1:p.Met711Val
bile salt export pump isoform X3	XP_016860654.1:p.Met711=	XP_016860654.1:p.Met711Val
bile salt export pump isoform X4	XP_016860655.1:p.Met454=	XP_016860655.1:p.Met454Val
bile salt export pump isoform X6	XP_016860656.1:p.Met272=	XP_016860656.1:p.Met272Val

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#.

91 SubSNP, 22 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ILLUMINA	ss65725356	Oct 16, 2006 (127)
2	PERLEGEN	ss68834723	May 17, 2007 (130)
3	PHARMGKB_PMT	ss69368970	May 17, 2007 (130)
4	AFFY	ss74808345	Aug 16, 2007 (130)
5	AFFY	ss76511292	Dec 06, 2007 (129)
6	PHARMGKB_AB_DME	ss84162861	Dec 15, 2007 (129)
7	HGSV	ss85238011	Dec 15, 2007 (129)
8	KRIBB_YJKIM	ss105028905	Feb 05, 2009 (130)
9	SNP500CANCER	ss105440070	Feb 05, 2009 (130)
10	1000GENOMES	ss111245692	Jan 25, 2009 (130)
11	ILLUMINA	ss161072208	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss164798183	Jul 04, 2010 (132)
13	1000GENOMES	ss219645109	Jul 14, 2010 (132)
14	ILLUMINA	ss244272740	Jul 04, 2010 (132)
15	ILLUMINA	ss410838562	Sep 17, 2011 (135)
16	ILLUMINA	ss479405212	Sep 08, 2015 (146)
17	1000GENOMES	ss489839582	May 04, 2012 (137)
18	EXOME_CHIP	ss491326691	May 04, 2012 (137)
19	CLINSEQ_SNP	ss491794150	May 04, 2012 (137)
20	ILLUMINA	ss535620094	Sep 08, 2015 (146)
21	TISHKOFF	ss556025261	Apr 25, 2013 (138)
22	NHLBI-ESP	ss712451969	Apr 25, 2013 (138)
23	ILLUMINA	ss780806524	Aug 21, 2014 (142)
24	ILLUMINA	ss783488197	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss974444349	Aug 21, 2014 (142)
26	EVA-GONL	ss977625775	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1067442234	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1069691635	Aug 21, 2014 (142)
29	1000GENOMES	ss1300359506	Aug 21, 2014 (142)
30	HAMMER_LAB	ss1397311526	Sep 08, 2015 (146)
31	EVA_FINRISK	ss1584021819	Apr 01, 2015 (144)
32	EVA_DECODE	ss1587063595	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1605110907	Apr 01, 2015 (144)
34	EVA_UK10K_TWINSUK	ss1648104940	Apr 01, 2015 (144)
35	EVA_EXAC	ss1686583220	Apr 01, 2015 (144)
36	EVA_MGP	ss1710986114	Apr 01, 2015 (144)
37	ILLUMINA	ss1752322555	Sep 08, 2015 (146)
38	HAMMER_LAB	ss1797887506	Sep 08, 2015 (146)
39	ILLUMINA	ss1917755736	Feb 12, 2016 (147)
40	WEILL_CORNELL_DGM	ss1920878093	Feb 12, 2016 (147)
41	ILLUMINA	ss1946057725	Feb 12, 2016 (147)
42	ILLUMINA	ss1958477321	Feb 12, 2016 (147)
43	JJLAB	ss2020973111	Sep 14, 2016 (149)
44	HUMAN_LONGEVITY	ss2236437445	Dec 20, 2016 (150)
45	GNOMAD	ss2733092587	Nov 08, 2017 (151)
46	GNOMAD	ss2746810241	Nov 08, 2017 (151)
47	GNOMAD	ss2782622470	Nov 08, 2017 (151)
48	AFFY	ss2985190975	Nov 08, 2017 (151)
49	SWEGEN	ss2990835856	Nov 08, 2017 (151)
50	ILLUMINA	ss3022038671	Nov 08, 2017 (151)
51	CSHL	ss3344597026	Nov 08, 2017 (151)
52	ILLUMINA	ss3628217747	Oct 11, 2018 (152)
53	ILLUMINA	ss3628217748	Oct 11, 2018 (152)
54	ILLUMINA	ss3634797758	Oct 11, 2018 (152)
55	ILLUMINA	ss3636487164	Oct 11, 2018 (152)
56	ILLUMINA	ss3640505057	Oct 11, 2018 (152)
57	ILLUMINA	ss3644760353	Oct 11, 2018 (152)
58	OMUKHERJEE_ADBS	ss3646274435	Oct 11, 2018 (152)
59	ILLUMINA	ss3652483034	Oct 11, 2018 (152)
60	ILLUMINA	ss3653957916	Oct 11, 2018 (152)
61	EGCUT_WGS	ss3658706848	Jul 13, 2019 (153)
62	EVA_DECODE	ss3705389199	Jul 13, 2019 (153)
63	ILLUMINA	ss3725843923	Jul 13, 2019 (153)
64	ACPOP	ss3729090683	Jul 13, 2019 (153)
65	ILLUMINA	ss3744482816	Jul 13, 2019 (153)
66	ILLUMINA	ss3745097605	Jul 13, 2019 (153)
67	PAGE_CC	ss3770963638	Jul 13, 2019 (153)
68	ILLUMINA	ss3772594197	Jul 13, 2019 (153)
69	KHV_HUMAN_GENOMES	ss3802057652	Jul 13, 2019 (153)
70	EVA	ss3823823655	Apr 25, 2020 (154)
71	EVA	ss3825612156	Apr 25, 2020 (154)
72	EVA	ss3827344571	Apr 25, 2020 (154)
73	SGDP_PRJ	ss3853938191	Apr 25, 2020 (154)
74	FSA-LAB	ss3984193097	Apr 26, 2021 (155)
75	EVA	ss3986202968	Apr 26, 2021 (155)
76	TOPMED	ss4533153543	Apr 26, 2021 (155)
77	EVA	ss5237636814	Oct 12, 2022 (156)
78	1000G_HIGH_COVERAGE	ss5250908510	Oct 12, 2022 (156)
79	EVA	ss5333990527	Oct 12, 2022 (156)
80	HUGCELL_USP	ss5450633309	Oct 12, 2022 (156)
81	EVA	ss5506682683	Oct 12, 2022 (156)
82	1000G_HIGH_COVERAGE	ss5527665899	Oct 12, 2022 (156)
83	SANFORD_IMAGENETICS	ss5624463654	Oct 12, 2022 (156)
84	SANFORD_IMAGENETICS	ss5630321528	Oct 12, 2022 (156)
85	EVA	ss5821153749	Oct 12, 2022 (156)
86	EVA	ss5847199993	Oct 12, 2022 (156)
87	EVA	ss5847891027	Oct 12, 2022 (156)
88	EVA	ss5848527167	Oct 12, 2022 (156)
89	EVA	ss5933410839	Oct 12, 2022 (156)
90	EVA	ss5956544771	Oct 12, 2022 (156)
91	EVA	ss5979589497	Oct 12, 2022 (156)
92	1000Genomes	NC_000002.11 - 169824983	Oct 11, 2018 (152)
93	1000Genomes_30x	NC_000002.12 - 168968473	Oct 12, 2022 (156)
94	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 169824983	Oct 11, 2018 (152)
95	Chileans	NC_000002.11 - 169824983	Apr 25, 2020 (154)
96	Genome-wide autozygosity in Daghestan	NC_000002.10 - 169533229	Apr 25, 2020 (154)
97	Genetic variation in the Estonian population	NC_000002.11 - 169824983	Oct 11, 2018 (152)
98	ExAC	NC_000002.11 - 169824983	Oct 11, 2018 (152)
99	FINRISK	NC_000002.11 - 169824983	Apr 25, 2020 (154)
100	gnomAD - Genomes	NC_000002.12 - 168968473	Apr 26, 2021 (155)
101	gnomAD - Exomes	NC_000002.11 - 169824983	Jul 13, 2019 (153)
102	GO Exome Sequencing Project	NC_000002.11 - 169824983	Oct 11, 2018 (152)
103	Genome of the Netherlands Release 5	NC_000002.11 - 169824983	Apr 25, 2020 (154)
104	HapMap	NC_000002.12 - 168968473	Apr 25, 2020 (154)
105	Medical Genome Project healthy controls from Spanish population	NC_000002.11 - 169824983	Apr 25, 2020 (154)
106	Northern Sweden	NC_000002.11 - 169824983	Jul 13, 2019 (153)
107	The PAGE Study	NC_000002.12 - 168968473	Jul 13, 2019 (153)
108	PharmGKB Aggregated	NC_000002.12 - 168968473	Apr 25, 2020 (154)
109	Qatari	NC_000002.11 - 169824983	Apr 25, 2020 (154)
110	SGDP_PRJ	NC_000002.11 - 169824983	Apr 25, 2020 (154)
111	TopMed	NC_000002.12 - 168968473	Apr 26, 2021 (155)
112	UK 10K study - Twins	NC_000002.11 - 169824983	Oct 11, 2018 (152)
113	ALFA	NC_000002.12 - 168968473	Apr 26, 2021 (155)
114	ClinVar	RCV000251833.3	Oct 12, 2022 (156)
115	ClinVar	RCV000272956.4	Oct 12, 2022 (156)
116	ClinVar	RCV001515639.4	Oct 12, 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).

Associated ID	History Updated (Build)
rs45576536	May 25, 2008 (130)
rs52799939	Sep 21, 2007 (128)
rs59217356	Mar 05, 2008 (129)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85238011	NC_000002.9:169650489:T:C	NC_000002.12:168968472:T:C	(self)
261403, ss76511292, ss111245692, ss161072208, ss164798183, ss244272740, ss410838562, ss491794150, ss1397311526, ss1587063595	NC_000002.10:169533228:T:C	NC_000002.12:168968472:T:C	(self)
11414256, 6297993, 235622, 4445096, 6475389, 18280, 2151660, 282086, 2766702, 102653, 2375548, 2920023, 5955171, 6297993, ss219645109, ss479405212, ss489839582, ss491326691, ss535620094, ss556025261, ss712451969, ss780806524, ss783488197, ss974444349, ss977625775, ss1067442234, ss1069691635, ss1300359506, ss1584021819, ss1605110907, ss1648104940, ss1686583220, ss1710986114, ss1752322555, ss1797887506, ss1917755736, ss1920878093, ss1946057725, ss1958477321, ss2020973111, ss2733092587, ss2746810241, ss2782622470, ss2985190975, ss2990835856, ss3022038671, ss3344597026, ss3628217747, ss3628217748, ss3634797758, ss3636487164, ss3640505057, ss3644760353, ss3646274435, ss3652483034, ss3653957916, ss3658706848, ss3729090683, ss3744482816, ss3745097605, ss3772594197, ss3823823655, ss3825612156, ss3827344571, ss3853938191, ss3984193097, ss3986202968, ss5333990527, ss5506682683, ss5624463654, ss5630321528, ss5821153749, ss5847199993, ss5847891027, ss5848527167, ss5956544771, ss5979589497	NC_000002.11:169824982:T:C	NC_000002.12:168968472:T:C	(self)
RCV000251833.3, RCV000272956.4, RCV001515639.4, 15191834, 81370872, 1945444, 185107, 6478, 336976422, 4366409510, ss2236437445, ss3705389199, ss3725843923, ss3770963638, ss3802057652, ss4533153543, ss5237636814, ss5250908510, ss5450633309, ss5527665899, ss5933410839	NC_000002.12:168968472:T:C	NC_000002.12:168968472:T:C	(self)
ss65725356, ss68834723, ss69368970, ss74808345, ss84162861, ss105028905, ss105440070	NT_005403.17:20034400:T:C	NC_000002.12:168968472:T:C	(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 rs11568364

PMID	Title	Author	Year	Journal
20010382	Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.	Ho RH et al.	2010	Pharmacogenetics and genomics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

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

rs11568364