Name: rs1457043
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.

rs1457043

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:58497880 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.420308 (126934/302002, ALFA)
C=0.452903 (119879/264690, TOPMED)
C=0.461448 (64576/139942, GnomAD) (+ 21 more)
C=0.46776 (36811/78696, PAGE_STUDY)
T=0.41956 (11856/28258, 14KJPN)
T=0.41945 (7030/16760, 8.3KJPN)
C=0.4931 (3158/6404, 1000G_30x)
T=0.4970 (2489/5008, 1000G)
C=0.4857 (2176/4480, Estonian)
C=0.3967 (1529/3854, ALSPAC)
C=0.3948 (1464/3708, TWINSUK)
T=0.4584 (1343/2930, KOREAN)
C=0.4376 (912/2084, HGDP_Stanford)
C=0.4973 (937/1884, HapMap)
T=0.4334 (794/1832, Korea1K)
C=0.390 (389/998, GoNL)
T=0.457 (357/782, PRJEB37584)
C=0.437 (262/600, NorthernSweden)
C=0.281 (114/406, SGDP_PRJ)
C=0.319 (69/216, Qatari)
T=0.439 (94/214, Vietnamese)
T=0.41 (26/64, Ancient Sardinia)
C=0.34 (15/44, Siberian)
C=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYP7A1 : Intron Variant
Publications: 3 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	307034	C=0.420732	T=0.579268
European	Sub	270330	C=0.416258	T=0.583742
African	Sub	9520	C=0.5659	T=0.4341
African Others	Sub	372	C=0.605	T=0.395
African American	Sub	9148	C=0.5643	T=0.4357
Asian	Sub	3916	C=0.5202	T=0.4798
East Asian	Sub	3174	C=0.5662	T=0.4338
Other Asian	Sub	742	C=0.323	T=0.677
Latin American 1	Sub	1126	C=0.4174	T=0.5826
Latin American 2	Sub	7116	C=0.2983	T=0.7017
South Asian	Sub	5224	C=0.4969	T=0.5031
Other	Sub	9802	C=0.4121	T=0.5879

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	302002	C=0.420308	T=0.579692
Allele Frequency Aggregator	European	Sub	267236	C=0.416317	T=0.583683
Allele Frequency Aggregator	Other	Sub	9004	C=0.4109	T=0.5891
Allele Frequency Aggregator	African	Sub	8380	C=0.5672	T=0.4328
Allele Frequency Aggregator	Latin American 2	Sub	7116	C=0.2983	T=0.7017
Allele Frequency Aggregator	South Asian	Sub	5224	C=0.4969	T=0.5031
Allele Frequency Aggregator	Asian	Sub	3916	C=0.5202	T=0.4798
Allele Frequency Aggregator	Latin American 1	Sub	1126	C=0.4174	T=0.5826
TopMed	Global	Study-wide	264690	C=0.452903	T=0.547097
gnomAD - Genomes	Global	Study-wide	139942	C=0.461448	T=0.538552
gnomAD - Genomes	European	Sub	75828	C=0.42811	T=0.57189
gnomAD - Genomes	African	Sub	41884	C=0.56105	T=0.43895
gnomAD - Genomes	American	Sub	13636	C=0.34578	T=0.65422
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.3576	T=0.6424
gnomAD - Genomes	East Asian	Sub	3122	C=0.5580	T=0.4420
gnomAD - Genomes	Other	Sub	2150	C=0.4507	T=0.5493
The PAGE Study	Global	Study-wide	78696	C=0.46776	T=0.53224
The PAGE Study	AfricanAmerican	Sub	32512	C=0.56361	T=0.43639
The PAGE Study	Mexican	Sub	10810	C=0.29352	T=0.70648
The PAGE Study	Asian	Sub	8318	C=0.5590	T=0.4410
The PAGE Study	PuertoRican	Sub	7916	C=0.3957	T=0.6043
The PAGE Study	NativeHawaiian	Sub	4534	C=0.3416	T=0.6584
The PAGE Study	Cuban	Sub	4230	C=0.4496	T=0.5504
The PAGE Study	Dominican	Sub	3828	C=0.4519	T=0.5481
The PAGE Study	CentralAmerican	Sub	2450	C=0.3163	T=0.6837
The PAGE Study	SouthAmerican	Sub	1982	C=0.3022	T=0.6978
The PAGE Study	NativeAmerican	Sub	1260	C=0.4222	T=0.5778
The PAGE Study	SouthAsian	Sub	856	C=0.520	T=0.480
14KJPN	JAPANESE	Study-wide	28258	C=0.58044	T=0.41956
8.3KJPN	JAPANESE	Study-wide	16760	C=0.58055	T=0.41945
1000Genomes_30x	Global	Study-wide	6404	C=0.4931	T=0.5069
1000Genomes_30x	African	Sub	1786	C=0.5823	T=0.4177
1000Genomes_30x	Europe	Sub	1266	C=0.4368	T=0.5632
1000Genomes_30x	South Asian	Sub	1202	C=0.4992	T=0.5008
1000Genomes_30x	East Asian	Sub	1170	C=0.5846	T=0.4154
1000Genomes_30x	American	Sub	980	C=0.287	T=0.713
1000Genomes	Global	Study-wide	5008	C=0.5030	T=0.4970
1000Genomes	African	Sub	1322	C=0.5862	T=0.4138
1000Genomes	East Asian	Sub	1008	C=0.6022	T=0.3978
1000Genomes	Europe	Sub	1006	C=0.4423	T=0.5577
1000Genomes	South Asian	Sub	978	C=0.499	T=0.501
1000Genomes	American	Sub	694	C=0.294	T=0.706
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4857	T=0.5143
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3967	T=0.6033
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3948	T=0.6052
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5416	A=0.0000, T=0.4584
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.4376	T=0.5624
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.534	T=0.466
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.471	T=0.529
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.349	T=0.651
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.466	T=0.534
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.669	T=0.331
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.139	T=0.861
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.04	T=0.96
HapMap	Global	Study-wide	1884	C=0.4973	T=0.5027
HapMap	American	Sub	768	C=0.441	T=0.559
HapMap	African	Sub	688	C=0.541	T=0.459
HapMap	Asian	Sub	252	C=0.599	T=0.401
HapMap	Europe	Sub	176	C=0.426	T=0.574
Korean Genome Project	KOREAN	Study-wide	1832	C=0.5666	T=0.4334
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.390	T=0.610
CNV burdens in cranial meningiomas	Global	Study-wide	782	C=0.543	T=0.457
CNV burdens in cranial meningiomas	CRM	Sub	782	C=0.543	T=0.457
Northern Sweden	ACPOP	Study-wide	600	C=0.437	T=0.563
SGDP_PRJ	Global	Study-wide	406	C=0.281	T=0.719
Qatari	Global	Study-wide	216	C=0.319	T=0.681
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.561	T=0.439
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	C=0.59	T=0.41
Siberian	Global	Study-wide	44	C=0.34	T=0.66
The Danish reference pan genome	Danish	Study-wide	40	C=0.45	T=0.55

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 8	NC_000008.11:g.58497880C>A
GRCh38.p14 chr 8	NC_000008.11:g.58497880C>T
GRCh37.p13 chr 8	NC_000008.10:g.59410439C>A
GRCh37.p13 chr 8	NC_000008.10:g.59410439C>T
CYP7A1 RefSeqGene	NG_007969.1:g.7283G>T
CYP7A1 RefSeqGene	NG_007969.1:g.7283G>A

Gene: CYP7A1, cytochrome P450 family 7 subfamily A member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYP7A1 transcript	NM_000780.4:c.321+349G>T	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=	A	T
GRCh38.p14 chr 8	NC_000008.11:g.58497880=	NC_000008.11:g.58497880C>A	NC_000008.11:g.58497880C>T
GRCh37.p13 chr 8	NC_000008.10:g.59410439=	NC_000008.10:g.59410439C>A	NC_000008.10:g.59410439C>T
CYP7A1 RefSeqGene	NG_007969.1:g.7283=	NG_007969.1:g.7283G>T	NG_007969.1:g.7283G>A
CYP7A1 transcript	NM_000780.3:c.321+349=	NM_000780.3:c.321+349G>T	NM_000780.3:c.321+349G>A
CYP7A1 transcript	NM_000780.4:c.321+349=	NM_000780.4:c.321+349G>T	NM_000780.4:c.321+349G>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#.

145 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2274867	Oct 23, 2000 (88)
2	RIKENSNPRC	ss12587756	Aug 26, 2003 (117)
3	CSHL-HAPMAP	ss17988961	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19767564	Feb 27, 2004 (120)
5	SSAHASNP	ss22702189	Apr 05, 2004 (121)
6	PERLEGEN	ss23980532	Sep 20, 2004 (123)
7	ABI	ss44841142	Mar 15, 2006 (126)
8	ILLUMINA	ss66639413	Nov 30, 2006 (127)
9	ILLUMINA	ss67108918	Nov 30, 2006 (127)
10	ILLUMINA	ss67445497	Nov 30, 2006 (127)
11	PERLEGEN	ss69049662	May 17, 2007 (127)
12	ILLUMINA	ss70434132	May 17, 2007 (127)
13	ILLUMINA	ss70620316	May 26, 2008 (130)
14	ILLUMINA	ss71168942	May 17, 2007 (127)
15	ILLUMINA	ss75544026	Dec 06, 2007 (129)
16	HGSV	ss78443660	Dec 06, 2007 (129)
17	KRIBB_YJKIM	ss80731416	Dec 15, 2007 (130)
18	KRIBB_YJKIM	ss83783158	Dec 15, 2007 (130)
19	BCMHGSC_JDW	ss93893412	Mar 25, 2008 (129)
20	HUMANGENOME_JCVI	ss97875205	Feb 06, 2009 (130)
21	BGI	ss105620497	Feb 06, 2009 (130)
22	1000GENOMES	ss108055051	Jan 22, 2009 (130)
23	1000GENOMES	ss113077522	Jan 25, 2009 (130)
24	ILLUMINA-UK	ss115963819	Feb 14, 2009 (130)
25	ILLUMINA	ss121704969	Dec 01, 2009 (131)
26	ENSEMBL	ss134368589	Dec 01, 2009 (131)
27	ENSEMBL	ss143497999	Dec 01, 2009 (131)
28	ILLUMINA	ss153448955	Dec 01, 2009 (131)
29	GMI	ss156413697	Dec 01, 2009 (131)
30	ILLUMINA	ss159272207	Dec 01, 2009 (131)
31	ILLUMINA	ss160356380	Dec 01, 2009 (131)
32	COMPLETE_GENOMICS	ss162434288	Jul 04, 2010 (132)
33	COMPLETE_GENOMICS	ss164756650	Jul 04, 2010 (132)
34	ILLUMINA	ss170530693	Jul 04, 2010 (132)
35	ILLUMINA	ss172516235	Jul 04, 2010 (132)
36	BUSHMAN	ss199210044	Jul 04, 2010 (132)
37	BCM-HGSC-SUB	ss208639868	Jul 04, 2010 (132)
38	1000GENOMES	ss223725279	Jul 14, 2010 (132)
39	1000GENOMES	ss234452073	Jul 15, 2010 (132)
40	1000GENOMES	ss241305649	Jul 15, 2010 (132)
41	BL	ss254356711	May 09, 2011 (134)
42	GMI	ss279826704	May 04, 2012 (137)
43	GMI	ss285850497	Apr 25, 2013 (138)
44	PJP	ss294088986	May 09, 2011 (134)
45	ILLUMINA	ss479983785	May 04, 2012 (137)
46	ILLUMINA	ss479992482	May 04, 2012 (137)
47	ILLUMINA	ss480643275	Sep 08, 2015 (146)
48	ILLUMINA	ss484790084	May 04, 2012 (137)
49	ILLUMINA	ss536875136	Sep 08, 2015 (146)
50	TISHKOFF	ss560773007	Apr 25, 2013 (138)
51	SSMP	ss655208842	Apr 25, 2013 (138)
52	ILLUMINA	ss778807734	Sep 08, 2015 (146)
53	ILLUMINA	ss782841697	Aug 21, 2014 (142)
54	ILLUMINA	ss783806363	Sep 08, 2015 (146)
55	ILLUMINA	ss825403406	Apr 01, 2015 (144)
56	ILLUMINA	ss832095423	Apr 01, 2015 (144)
57	ILLUMINA	ss832784378	Aug 21, 2014 (142)
58	ILLUMINA	ss833375208	Aug 21, 2014 (142)
59	ILLUMINA	ss834267962	Sep 08, 2015 (146)
60	EVA-GONL	ss985556909	Aug 21, 2014 (142)
61	JMKIDD_LAB	ss1075549530	Aug 21, 2014 (142)
62	1000GENOMES	ss1330015639	Aug 21, 2014 (142)
63	DDI	ss1431524999	Apr 01, 2015 (144)
64	EVA_GENOME_DK	ss1582699015	Apr 01, 2015 (144)
65	EVA_DECODE	ss1595152661	Apr 01, 2015 (144)
66	EVA_UK10K_ALSPAC	ss1620721312	Apr 01, 2015 (144)
67	EVA_UK10K_TWINSUK	ss1663715345	Apr 01, 2015 (144)
68	EVA_SVP	ss1713038759	Apr 01, 2015 (144)
69	ILLUMINA	ss1752736848	Sep 08, 2015 (146)
70	HAMMER_LAB	ss1805552059	Sep 08, 2015 (146)
71	WEILL_CORNELL_DGM	ss1928844486	Feb 12, 2016 (147)
72	ILLUMINA	ss1946237474	Feb 12, 2016 (147)
73	ILLUMINA	ss1959112518	Feb 12, 2016 (147)
74	GENOMED	ss1970988088	Jul 19, 2016 (147)
75	JJLAB	ss2025123610	Sep 14, 2016 (149)
76	USC_VALOUEV	ss2153349622	Dec 20, 2016 (150)
77	HUMAN_LONGEVITY	ss2303427411	Dec 20, 2016 (150)
78	SYSTEMSBIOZJU	ss2627041633	Nov 08, 2017 (151)
79	ILLUMINA	ss2634750676	Nov 08, 2017 (151)
80	GRF	ss2709119090	Nov 08, 2017 (151)
81	ILLUMINA	ss2711138413	Nov 08, 2017 (151)
82	GNOMAD	ss2867232555	Nov 08, 2017 (151)
83	SWEGEN	ss3003245752	Nov 08, 2017 (151)
84	ILLUMINA	ss3022847697	Nov 08, 2017 (151)
85	BIOINF_KMB_FNS_UNIBA	ss3026348510	Nov 08, 2017 (151)
86	CSHL	ss3348198781	Nov 08, 2017 (151)
87	ILLUMINA	ss3625952347	Oct 12, 2018 (152)
88	ILLUMINA	ss3630066992	Oct 12, 2018 (152)
89	ILLUMINA	ss3632649644	Oct 12, 2018 (152)
90	ILLUMINA	ss3633501506	Oct 12, 2018 (152)
91	ILLUMINA	ss3634228347	Oct 12, 2018 (152)
92	ILLUMINA	ss3635172742	Oct 12, 2018 (152)
93	ILLUMINA	ss3635907120	Oct 12, 2018 (152)
94	ILLUMINA	ss3636911062	Oct 12, 2018 (152)
95	ILLUMINA	ss3637660308	Oct 12, 2018 (152)
96	ILLUMINA	ss3638761913	Oct 12, 2018 (152)
97	ILLUMINA	ss3639383255	Oct 12, 2018 (152)
98	ILLUMINA	ss3639720872	Oct 12, 2018 (152)
99	ILLUMINA	ss3640880032	Oct 12, 2018 (152)
100	ILLUMINA	ss3641227919	Oct 12, 2018 (152)
101	ILLUMINA	ss3641525587	Oct 12, 2018 (152)
102	ILLUMINA	ss3643692652	Oct 12, 2018 (152)
103	ILLUMINA	ss3644970695	Oct 12, 2018 (152)
104	URBANLAB	ss3648923506	Oct 12, 2018 (152)
105	ILLUMINA	ss3653390539	Oct 12, 2018 (152)
106	EGCUT_WGS	ss3670926477	Jul 13, 2019 (153)
107	EVA_DECODE	ss3722093923	Jul 13, 2019 (153)
108	ILLUMINA	ss3726539647	Jul 13, 2019 (153)
109	ACPOP	ss3735697481	Jul 13, 2019 (153)
110	ILLUMINA	ss3744306286	Jul 13, 2019 (153)
111	ILLUMINA	ss3745472622	Jul 13, 2019 (153)
112	EVA	ss3768049560	Jul 13, 2019 (153)
113	PAGE_CC	ss3771443796	Jul 13, 2019 (153)
114	ILLUMINA	ss3772965045	Jul 13, 2019 (153)
115	PACBIO	ss3786156647	Jul 13, 2019 (153)
116	PACBIO	ss3791410715	Jul 13, 2019 (153)
117	PACBIO	ss3796292053	Jul 13, 2019 (153)
118	KHV_HUMAN_GENOMES	ss3811206696	Jul 13, 2019 (153)
119	EVA	ss3831183873	Apr 26, 2020 (154)
120	EVA	ss3839100921	Apr 26, 2020 (154)
121	EVA	ss3844560491	Apr 26, 2020 (154)
122	HGDP	ss3847914622	Apr 26, 2020 (154)
123	SGDP_PRJ	ss3870008717	Apr 26, 2020 (154)
124	KRGDB	ss3917522291	Apr 26, 2020 (154)
125	KOGIC	ss3963950544	Apr 26, 2020 (154)
126	EVA	ss3984605808	Apr 26, 2021 (155)
127	EVA	ss3985361853	Apr 26, 2021 (155)
128	EVA	ss4017391894	Apr 26, 2021 (155)
129	TOPMED	ss4787522419	Apr 26, 2021 (155)
130	TOMMO_GENOMICS	ss5188887779	Apr 26, 2021 (155)
131	1000G_HIGH_COVERAGE	ss5277281653	Oct 16, 2022 (156)
132	EVA	ss5315333950	Oct 16, 2022 (156)
133	EVA	ss5381408734	Oct 16, 2022 (156)
134	HUGCELL_USP	ss5473834102	Oct 16, 2022 (156)
135	EVA	ss5509369757	Oct 16, 2022 (156)
136	1000G_HIGH_COVERAGE	ss5567725069	Oct 16, 2022 (156)
137	SANFORD_IMAGENETICS	ss5645460774	Oct 16, 2022 (156)
138	TOMMO_GENOMICS	ss5731004609	Oct 16, 2022 (156)
139	EVA	ss5799756790	Oct 16, 2022 (156)
140	YY_MCH	ss5809744745	Oct 16, 2022 (156)
141	EVA	ss5830588391	Oct 16, 2022 (156)
142	EVA	ss5848177480	Oct 16, 2022 (156)
143	EVA	ss5856389818	Oct 16, 2022 (156)
144	EVA	ss5889124892	Oct 16, 2022 (156)
145	EVA	ss5974670247	Oct 16, 2022 (156)
146	1000Genomes	NC_000008.10 - 59410439	Oct 12, 2018 (152)
147	1000Genomes_30x	NC_000008.11 - 58497880	Oct 16, 2022 (156)
148	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 59410439	Oct 12, 2018 (152)
149	Genetic variation in the Estonian population	NC_000008.10 - 59410439	Oct 12, 2018 (152)
150	The Danish reference pan genome	NC_000008.10 - 59410439	Apr 26, 2020 (154)
151	gnomAD - Genomes	NC_000008.11 - 58497880	Apr 26, 2021 (155)
152	Genome of the Netherlands Release 5	NC_000008.10 - 59410439	Apr 26, 2020 (154)
153	HGDP-CEPH-db Supplement 1	NC_000008.9 - 59572993	Apr 26, 2020 (154)
154	HapMap	NC_000008.11 - 58497880	Apr 26, 2020 (154)
155	KOREAN population from KRGDB	NC_000008.10 - 59410439	Apr 26, 2020 (154)
156	Korean Genome Project	NC_000008.11 - 58497880	Apr 26, 2020 (154)
157	Northern Sweden	NC_000008.10 - 59410439	Jul 13, 2019 (153)
158	The PAGE Study	NC_000008.11 - 58497880	Jul 13, 2019 (153)
159	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 59410439	Apr 26, 2021 (155)
160	CNV burdens in cranial meningiomas	NC_000008.10 - 59410439	Apr 26, 2021 (155)
161	Qatari	NC_000008.10 - 59410439	Apr 26, 2020 (154)
162	SGDP_PRJ	NC_000008.10 - 59410439	Apr 26, 2020 (154)
163	Siberian	NC_000008.10 - 59410439	Apr 26, 2020 (154)
164	8.3KJPN	NC_000008.10 - 59410439	Apr 26, 2021 (155)
165	14KJPN	NC_000008.11 - 58497880	Oct 16, 2022 (156)
166	TopMed	NC_000008.11 - 58497880	Apr 26, 2021 (155)
167	UK 10K study - Twins	NC_000008.10 - 59410439	Oct 12, 2018 (152)
168	A Vietnamese Genetic Variation Database	NC_000008.10 - 59410439	Jul 13, 2019 (153)
169	ALFA	NC_000008.11 - 58497880	Apr 26, 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)
rs60878741	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
24699685, ss3917522291	NC_000008.10:59410438:C:A	NC_000008.11:58497879:C:A	(self)
592514, ss78443660, ss93893412, ss108055051, ss113077522, ss115963819, ss162434288, ss164756650, ss199210044, ss208639868, ss254356711, ss279826704, ss285850497, ss294088986, ss479983785, ss825403406, ss1595152661, ss1713038759, ss3639383255, ss3639720872, ss3643692652, ss3847914622	NC_000008.9:59572992:C:T	NC_000008.11:58497879:C:T	(self)
42145309, 23437660, 16664725, 8863953, 10464171, 24699685, 8982346, 587780, 155246, 10886416, 22025697, 5865976, 46857086, 23437660, 5215368, ss223725279, ss234452073, ss241305649, ss479992482, ss480643275, ss484790084, ss536875136, ss560773007, ss655208842, ss778807734, ss782841697, ss783806363, ss832095423, ss832784378, ss833375208, ss834267962, ss985556909, ss1075549530, ss1330015639, ss1431524999, ss1582699015, ss1620721312, ss1663715345, ss1752736848, ss1805552059, ss1928844486, ss1946237474, ss1959112518, ss1970988088, ss2025123610, ss2153349622, ss2627041633, ss2634750676, ss2709119090, ss2711138413, ss2867232555, ss3003245752, ss3022847697, ss3348198781, ss3625952347, ss3630066992, ss3632649644, ss3633501506, ss3634228347, ss3635172742, ss3635907120, ss3636911062, ss3637660308, ss3638761913, ss3640880032, ss3641227919, ss3641525587, ss3644970695, ss3653390539, ss3670926477, ss3735697481, ss3744306286, ss3745472622, ss3768049560, ss3772965045, ss3786156647, ss3791410715, ss3796292053, ss3831183873, ss3839100921, ss3870008717, ss3917522291, ss3984605808, ss3985361853, ss4017391894, ss5188887779, ss5315333950, ss5381408734, ss5509369757, ss5645460774, ss5799756790, ss5830588391, ss5848177480, ss5974670247	NC_000008.10:59410438:C:T	NC_000008.11:58497879:C:T	(self)
55251004, 297178440, 3630343, 20328545, 665265, 64841713, 624899979, 722131154, ss2303427411, ss3026348510, ss3648923506, ss3722093923, ss3726539647, ss3771443796, ss3811206696, ss3844560491, ss3963950544, ss4787522419, ss5277281653, ss5473834102, ss5567725069, ss5731004609, ss5809744745, ss5856389818, ss5889124892	NC_000008.11:58497879:C:T	NC_000008.11:58497879:C:T	(self)
ss17988961, ss19767564, ss22702189	NT_008183.17:11252987:C:T	NC_000008.11:58497879:C:T	(self)
ss2274867, ss12587756, ss23980532, ss44841142, ss66639413, ss67108918, ss67445497, ss69049662, ss70434132, ss70620316, ss71168942, ss75544026, ss80731416, ss83783158, ss97875205, ss105620497, ss121704969, ss134368589, ss143497999, ss153448955, ss156413697, ss159272207, ss160356380, ss170530693, ss172516235	NT_008183.19:11274839:C:T	NC_000008.11:58497879:C:T	(self)

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

3 citations for rs1457043

PMID	Title	Author	Year	Journal
16709249	Linkage disequilibrium blocks, haplotype structure, and htSNPs of human CYP7A1 gene.	Nakamoto K et al.	2006	BMC genetics
19284636	Missing call bias in high-throughput genotyping.	Fu W et al.	2009	BMC genomics
27155186	CYP7A1, BAAT and UGT1A1 polymorphisms and susceptibility to anti-tuberculosis drug-induced hepatotoxicity.	Chen R et al.	2016	The international journal of tuberculosis and lung disease

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

rs1457043