Name: rs749966
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.

rs749966

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:154341932 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.123624 (32722/264690, TOPMED)
T=0.133645 (18718/140058, GnomAD)
T=0.13647 (12029/88146, ALFA) (+ 20 more)
T=0.15781 (4459/28256, 14KJPN)
T=0.15901 (2665/16760, 8.3KJPN)
T=0.1157 (741/6404, 1000G_30x)
T=0.1160 (581/5008, 1000G)
T=0.1382 (619/4480, Estonian)
T=0.1461 (563/3854, ALSPAC)
T=0.1446 (536/3708, TWINSUK)
T=0.1244 (364/2926, KOREAN)
T=0.0902 (188/2084, HGDP_Stanford)
T=0.1339 (252/1882, HapMap)
T=0.1119 (205/1832, Korea1K)
T=0.133 (133/998, GoNL)
T=0.096 (60/626, Chileans)
T=0.180 (108/600, NorthernSweden)
T=0.093 (20/216, Qatari)
T=0.116 (25/216, Vietnamese)
T=0.28 (26/92, Ancient Sardinia)
C=0.44 (37/84, SGDP_PRJ)
T=0.17 (7/40, GENOME_DK)
C=0.33 (6/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ATP8B2 : 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	88146	C=0.86353	T=0.13647
European	Sub	70606	C=0.85751	T=0.14249
African	Sub	5402	C=0.8867	T=0.1133
African Others	Sub	192	C=0.911	T=0.089
African American	Sub	5210	C=0.8858	T=0.1142
Asian	Sub	250	C=0.916	T=0.084
East Asian	Sub	176	C=0.892	T=0.108
Other Asian	Sub	74	C=0.97	T=0.03
Latin American 1	Sub	414	C=0.879	T=0.121
Latin American 2	Sub	3466	C=0.9080	T=0.0920
South Asian	Sub	4982	C=0.8796	T=0.1204
Other	Sub	3026	C=0.8790	T=0.1210

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	C=0.876376	T=0.123624
gnomAD - Genomes	Global	Study-wide	140058	C=0.866355	T=0.133645
gnomAD - Genomes	European	Sub	75838	C=0.84653	T=0.15347
gnomAD - Genomes	African	Sub	41992	C=0.88879	T=0.11121
gnomAD - Genomes	American	Sub	13634	C=0.89159	T=0.10841
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.8898	T=0.1102
gnomAD - Genomes	East Asian	Sub	3122	C=0.9074	T=0.0926
gnomAD - Genomes	Other	Sub	2152	C=0.8717	T=0.1283
Allele Frequency Aggregator	Total	Global	88146	C=0.86353	T=0.13647
Allele Frequency Aggregator	European	Sub	70606	C=0.85751	T=0.14249
Allele Frequency Aggregator	African	Sub	5402	C=0.8867	T=0.1133
Allele Frequency Aggregator	South Asian	Sub	4982	C=0.8796	T=0.1204
Allele Frequency Aggregator	Latin American 2	Sub	3466	C=0.9080	T=0.0920
Allele Frequency Aggregator	Other	Sub	3026	C=0.8790	T=0.1210
Allele Frequency Aggregator	Latin American 1	Sub	414	C=0.879	T=0.121
Allele Frequency Aggregator	Asian	Sub	250	C=0.916	T=0.084
14KJPN	JAPANESE	Study-wide	28256	C=0.84219	T=0.15781
8.3KJPN	JAPANESE	Study-wide	16760	C=0.84099	T=0.15901
1000Genomes_30x	Global	Study-wide	6404	C=0.8843	T=0.1157
1000Genomes_30x	African	Sub	1786	C=0.8975	T=0.1025
1000Genomes_30x	Europe	Sub	1266	C=0.8483	T=0.1517
1000Genomes_30x	South Asian	Sub	1202	C=0.8694	T=0.1306
1000Genomes_30x	East Asian	Sub	1170	C=0.9068	T=0.0932
1000Genomes_30x	American	Sub	980	C=0.898	T=0.102
1000Genomes	Global	Study-wide	5008	C=0.8840	T=0.1160
1000Genomes	African	Sub	1322	C=0.8956	T=0.1044
1000Genomes	East Asian	Sub	1008	C=0.9058	T=0.0942
1000Genomes	Europe	Sub	1006	C=0.8529	T=0.1471
1000Genomes	South Asian	Sub	978	C=0.868	T=0.132
1000Genomes	American	Sub	694	C=0.898	T=0.102
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8618	T=0.1382
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8539	T=0.1461
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8554	T=0.1446
KOREAN population from KRGDB	KOREAN	Study-wide	2926	C=0.8756	T=0.1244
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.9098	T=0.0902
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.894	T=0.106
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.899	T=0.101
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.929	T=0.071
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.856	T=0.144
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.909	T=0.091
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.986	T=0.014
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=1.00	T=0.00
HapMap	Global	Study-wide	1882	C=0.8661	T=0.1339
HapMap	American	Sub	766	C=0.869	T=0.131
HapMap	African	Sub	686	C=0.863	T=0.137
HapMap	Asian	Sub	254	C=0.835	T=0.165
HapMap	Europe	Sub	176	C=0.909	T=0.091
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8881	T=0.1119
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.867	T=0.133
Chileans	Chilean	Study-wide	626	C=0.904	T=0.096
Northern Sweden	ACPOP	Study-wide	600	C=0.820	T=0.180
Qatari	Global	Study-wide	216	C=0.907	T=0.093
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.884	T=0.116
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	92	C=0.72	T=0.28
SGDP_PRJ	Global	Study-wide	84	C=0.44	T=0.56
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	18	C=0.33	T=0.67

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.154341932C>T
GRCh37.p13 chr 1	NC_000001.10:g.154314408C>T

Gene: ATP8B2, ATPase phospholipid transporting 8B2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATP8B2 transcript variant 3	NM_001367934.1:c.1301-548… NM_001367934.1:c.1301-548C>T	N/A	Intron Variant
ATP8B2 transcript variant 4	NM_001370596.1:c.1244-548… NM_001370596.1:c.1244-548C>T	N/A	Intron Variant
ATP8B2 transcript variant 5	NM_001370597.1:c.1244-548… NM_001370597.1:c.1244-548C>T	N/A	Intron Variant
ATP8B2 transcript variant 1	NM_001372009.1:c.1244-548… NM_001372009.1:c.1244-548C>T	N/A	Intron Variant
ATP8B2 transcript variant 2	NM_001005855.2:c.	N/A	Genic Downstream Transcript Variant
ATP8B2 transcript variant X1	XM_047425999.1:c.1301-548… XM_047425999.1:c.1301-548C>T	N/A	Intron Variant
ATP8B2 transcript variant X2	XR_007062016.1:n.	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.

Not Reported in ClinVar

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	C=	T
GRCh38.p14 chr 1	NC_000001.11:g.154341932=	NC_000001.11:g.154341932C>T
GRCh37.p13 chr 1	NC_000001.10:g.154314408=	NC_000001.10:g.154314408C>T
ATP8B2 transcript variant 3	NM_001367934.1:c.1301-548=	NM_001367934.1:c.1301-548C>T
ATP8B2 transcript variant 4	NM_001370596.1:c.1244-548=	NM_001370596.1:c.1244-548C>T
ATP8B2 transcript variant 5	NM_001370597.1:c.1244-548=	NM_001370597.1:c.1244-548C>T
ATP8B2 transcript variant 1	NM_001372009.1:c.1244-548=	NM_001372009.1:c.1244-548C>T
ATP8B2 transcript variant 1	NM_020452.3:c.1343-548=	NM_020452.3:c.1343-548C>T
ATP8B2 transcript variant X1	XM_005245355.1:c.1301-548=	XM_005245355.1:c.1301-548C>T
ATP8B2 transcript variant X2	XM_005245356.1:c.1244-548=	XM_005245356.1:c.1244-548C>T
ATP8B2 transcript variant X1	XM_047425999.1:c.1301-548=	XM_047425999.1:c.1301-548C>T

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#.

97 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss101529	Oct 05, 2000 (86)
2	SC_JCM	ss5691185	Feb 20, 2003 (111)
3	ABI	ss44040573	Mar 15, 2006 (126)
4	ILLUMINA	ss66818167	Dec 01, 2006 (127)
5	ILLUMINA	ss67582895	Dec 01, 2006 (127)
6	ILLUMINA	ss67965172	Dec 01, 2006 (127)
7	ILLUMINA	ss70929977	May 23, 2008 (130)
8	ILLUMINA	ss71531427	May 17, 2007 (127)
9	ILLUMINA	ss75860978	Dec 06, 2007 (129)
10	AFFY	ss76671050	Dec 06, 2007 (129)
11	ILLUMINA	ss79258387	Dec 14, 2007 (130)
12	KRIBB_YJKIM	ss83548653	Dec 14, 2007 (130)
13	BCMHGSC_JDW	ss87823893	Mar 23, 2008 (129)
14	HUMANGENOME_JCVI	ss99250966	Feb 03, 2009 (130)
15	1000GENOMES	ss108597846	Jan 23, 2009 (130)
16	1000GENOMES	ss111151885	Jan 25, 2009 (130)
17	ILLUMINA	ss122764948	Dec 01, 2009 (131)
18	ENSEMBL	ss138082950	Dec 01, 2009 (131)
19	ENSEMBL	ss139211171	Dec 01, 2009 (131)
20	ILLUMINA	ss154426291	Dec 01, 2009 (131)
21	ILLUMINA	ss159601410	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss164115973	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss167131353	Jul 04, 2010 (132)
24	ILLUMINA	ss172296718	Jul 04, 2010 (132)
25	ILLUMINA	ss174386391	Jul 04, 2010 (132)
26	BCM-HGSC-SUB	ss205499822	Jul 04, 2010 (132)
27	1000GENOMES	ss218650587	Jul 14, 2010 (132)
28	1000GENOMES	ss230731367	Jul 14, 2010 (132)
29	1000GENOMES	ss238379357	Jul 15, 2010 (132)
30	GMI	ss276050573	May 04, 2012 (137)
31	PJP	ss290636723	May 09, 2011 (134)
32	ILLUMINA	ss482105953	May 04, 2012 (137)
33	ILLUMINA	ss483338083	May 04, 2012 (137)
34	ILLUMINA	ss535552265	Sep 08, 2015 (146)
35	TISHKOFF	ss554692279	Apr 25, 2013 (138)
36	SSMP	ss648412983	Apr 25, 2013 (138)
37	ILLUMINA	ss780239746	Sep 08, 2015 (146)
38	ILLUMINA	ss782112163	Sep 08, 2015 (146)
39	ILLUMINA	ss825588905	Apr 01, 2015 (144)
40	ILLUMINA	ss833112411	Jul 12, 2019 (153)
41	ILLUMINA	ss835725156	Sep 08, 2015 (146)
42	EVA-GONL	ss975680973	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1068268370	Aug 21, 2014 (142)
44	1000GENOMES	ss1292919226	Aug 21, 2014 (142)
45	EVA_GENOME_DK	ss1574390903	Apr 01, 2015 (144)
46	EVA_DECODE	ss1585062264	Apr 01, 2015 (144)
47	EVA_UK10K_ALSPAC	ss1601210630	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1644204663	Apr 01, 2015 (144)
49	EVA_SVP	ss1712370801	Apr 01, 2015 (144)
50	WEILL_CORNELL_DGM	ss1918914823	Feb 12, 2016 (147)
51	GENOMED	ss1966867193	Jul 19, 2016 (147)
52	JJLAB	ss2019972907	Sep 14, 2016 (149)
53	USC_VALOUEV	ss2147997299	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2166527509	Dec 20, 2016 (150)
55	ILLUMINA	ss2632575872	Nov 08, 2017 (151)
56	GRF	ss2697970118	Nov 08, 2017 (151)
57	GNOMAD	ss2761296811	Nov 08, 2017 (151)
58	SWEGEN	ss2987749388	Nov 08, 2017 (151)
59	BIOINF_KMB_FNS_UNIBA	ss3023743540	Nov 08, 2017 (151)
60	CSHL	ss3343709743	Nov 08, 2017 (151)
61	ILLUMINA	ss3626208024	Oct 11, 2018 (152)
62	ILLUMINA	ss3630608786	Oct 11, 2018 (152)
63	ILLUMINA	ss3637787190	Oct 11, 2018 (152)
64	ILLUMINA	ss3638910495	Oct 11, 2018 (152)
65	ILLUMINA	ss3639453415	Oct 11, 2018 (152)
66	ILLUMINA	ss3640987220	Oct 11, 2018 (152)
67	ILLUMINA	ss3641281256	Oct 11, 2018 (152)
68	ILLUMINA	ss3641616583	Oct 11, 2018 (152)
69	ILLUMINA	ss3642796479	Oct 11, 2018 (152)
70	URBANLAB	ss3646790837	Oct 11, 2018 (152)
71	EGCUT_WGS	ss3655689339	Jul 12, 2019 (153)
72	EVA_DECODE	ss3687778770	Jul 12, 2019 (153)
73	ACPOP	ss3727484222	Jul 12, 2019 (153)
74	EVA	ss3746806116	Jul 12, 2019 (153)
75	KHV_HUMAN_GENOMES	ss3799808074	Jul 12, 2019 (153)
76	EVA	ss3826423202	Apr 25, 2020 (154)
77	HGDP	ss3847349402	Apr 25, 2020 (154)
78	SGDP_PRJ	ss3850003380	Apr 25, 2020 (154)
79	KRGDB	ss3895208823	Apr 25, 2020 (154)
80	KOGIC	ss3945647222	Apr 25, 2020 (154)
81	EVA	ss3984825343	Apr 25, 2021 (155)
82	EVA	ss4016937966	Apr 25, 2021 (155)
83	TOPMED	ss4468244251	Apr 25, 2021 (155)
84	TOMMO_GENOMICS	ss5146474911	Apr 25, 2021 (155)
85	1000G_HIGH_COVERAGE	ss5244287318	Oct 17, 2022 (156)
86	EVA	ss5314650854	Oct 17, 2022 (156)
87	EVA	ss5322039624	Oct 17, 2022 (156)
88	HUGCELL_USP	ss5444881240	Oct 17, 2022 (156)
89	EVA	ss5506028810	Oct 17, 2022 (156)
90	1000G_HIGH_COVERAGE	ss5517612806	Oct 17, 2022 (156)
91	SANFORD_IMAGENETICS	ss5626588419	Oct 17, 2022 (156)
92	TOMMO_GENOMICS	ss5673667841	Oct 17, 2022 (156)
93	YY_MCH	ss5801258719	Oct 17, 2022 (156)
94	EVA	ss5832663234	Oct 17, 2022 (156)
95	EVA	ss5849108189	Oct 17, 2022 (156)
96	EVA	ss5910239207	Oct 17, 2022 (156)
97	EVA	ss5938382143	Oct 17, 2022 (156)
98	1000Genomes	NC_000001.10 - 154314408	Oct 11, 2018 (152)
99	1000Genomes_30x	NC_000001.11 - 154341932	Oct 17, 2022 (156)
100	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 154314408	Oct 11, 2018 (152)
101	Chileans	NC_000001.10 - 154314408	Apr 25, 2020 (154)
102	Genetic variation in the Estonian population	NC_000001.10 - 154314408	Oct 11, 2018 (152)
103	The Danish reference pan genome	NC_000001.10 - 154314408	Apr 25, 2020 (154)
104	gnomAD - Genomes	NC_000001.11 - 154341932	Apr 25, 2021 (155)
105	Genome of the Netherlands Release 5	NC_000001.10 - 154314408	Apr 25, 2020 (154)
106	HGDP-CEPH-db Supplement 1	NC_000001.9 - 152581032	Apr 25, 2020 (154)
107	HapMap	NC_000001.11 - 154341932	Apr 25, 2020 (154)
108	KOREAN population from KRGDB	NC_000001.10 - 154314408	Apr 25, 2020 (154)
109	Korean Genome Project	NC_000001.11 - 154341932	Apr 25, 2020 (154)
110	Northern Sweden	NC_000001.10 - 154314408	Jul 12, 2019 (153)
111	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 154314408	Apr 25, 2021 (155)
112	Qatari	NC_000001.10 - 154314408	Apr 25, 2020 (154)
113	SGDP_PRJ	NC_000001.10 - 154314408	Apr 25, 2020 (154)
114	Siberian	NC_000001.10 - 154314408	Apr 25, 2020 (154)
115	8.3KJPN	NC_000001.10 - 154314408	Apr 25, 2021 (155)
116	14KJPN	NC_000001.11 - 154341932	Oct 17, 2022 (156)
117	TopMed	NC_000001.11 - 154341932	Apr 25, 2021 (155)
118	UK 10K study - Twins	NC_000001.10 - 154314408	Oct 11, 2018 (152)
119	A Vietnamese Genetic Variation Database	NC_000001.10 - 154314408	Jul 12, 2019 (153)
120	ALFA	NC_000001.11 - 154341932	Apr 25, 2021 (155)

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)
rs56930143	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3638910495, ss3639453415	NC_000001.8:151127480:C:T	NC_000001.11:154341931:C:T	(self)
27294, ss87823893, ss108597846, ss111151885, ss164115973, ss167131353, ss205499822, ss276050573, ss290636723, ss482105953, ss825588905, ss1585062264, ss1712370801, ss3642796479, ss3847349402	NC_000001.9:152581031:C:T	NC_000001.11:154341931:C:T	(self)
3711027, 2017461, 21020, 1427587, 1708000, 876733, 2386217, 769087, 51270, 956753, 2020360, 513653, 4444218, 2017461, 433655, ss218650587, ss230731367, ss238379357, ss483338083, ss535552265, ss554692279, ss648412983, ss780239746, ss782112163, ss833112411, ss835725156, ss975680973, ss1068268370, ss1292919226, ss1574390903, ss1601210630, ss1644204663, ss1918914823, ss1966867193, ss2019972907, ss2147997299, ss2632575872, ss2697970118, ss2761296811, ss2987749388, ss3343709743, ss3626208024, ss3630608786, ss3637787190, ss3640987220, ss3641281256, ss3641616583, ss3655689339, ss3727484222, ss3746806116, ss3826423202, ss3850003380, ss3895208823, ss3984825343, ss4016937966, ss5146474911, ss5314650854, ss5322039624, ss5506028810, ss5626588419, ss5832663234, ss5938382143	NC_000001.10:154314407:C:T	NC_000001.11:154341931:C:T	(self)
5138741, 27002052, 176208, 2025223, 7504945, 31850586, 5269339072, ss2166527509, ss3023743540, ss3646790837, ss3687778770, ss3799808074, ss3945647222, ss4468244251, ss5244287318, ss5444881240, ss5517612806, ss5673667841, ss5801258719, ss5849108189, ss5910239207	NC_000001.11:154341931:C:T	NC_000001.11:154341931:C:T	(self)
ss101529, ss5691185, ss44040573, ss66818167, ss67582895, ss67965172, ss70929977, ss71531427, ss75860978, ss76671050, ss79258387, ss83548653, ss99250966, ss122764948, ss138082950, ss139211171, ss154426291, ss159601410, ss172296718, ss174386391	NT_004487.19:5803049:C:T	NC_000001.11:154341931:C:T	(self)

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

No publications for rs749966

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs749966