Name: rs45627432
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.

rs45627432

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:16014822 (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=0.002025 (536/264690, TOPMED)
T=0.001241 (174/140198, GnomAD)
T=0.01738 (491/28258, 14KJPN) (+ 9 more)
T=0.01718 (288/16760, 8.3KJPN)
T=0.00000 (0/14976, ALFA)
T=0.0064 (41/6404, 1000G_30x)
T=0.0068 (34/5008, 1000G)
T=0.0246 (72/2922, KOREAN)
T=0.0027 (3/1126, Daghestan)
T=0.019 (4/214, Vietnamese)
C=0.5 (2/4, SGDP_PRJ)
T=0.5 (2/4, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABCC1 : 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	14976	C=1.00000	T=0.00000
European	Sub	9824	C=1.0000	T=0.0000
African	Sub	3364	C=1.0000	T=0.0000
African Others	Sub	114	C=1.000	T=0.000
African American	Sub	3250	C=1.0000	T=0.0000
Asian	Sub	104	C=1.000	T=0.000
East Asian	Sub	84	C=1.00	T=0.00
Other Asian	Sub	20	C=1.00	T=0.00
Latin American 1	Sub	146	C=1.000	T=0.000
Latin American 2	Sub	610	C=1.000	T=0.000
South Asian	Sub	98	C=1.00	T=0.00
Other	Sub	830	C=1.000	T=0.000

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	C=0.997975	T=0.002025
gnomAD - Genomes	Global	Study-wide	140198	C=0.998759	T=0.001241
gnomAD - Genomes	European	Sub	75936	C=0.99999	T=0.00001
gnomAD - Genomes	African	Sub	42014	C=0.99921	T=0.00079
gnomAD - Genomes	American	Sub	13648	C=0.99963	T=0.00037
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=1.0000	T=0.0000
gnomAD - Genomes	East Asian	Sub	3130	C=0.9591	T=0.0409
gnomAD - Genomes	Other	Sub	2150	C=0.9967	T=0.0033
14KJPN	JAPANESE	Study-wide	28258	C=0.98262	T=0.01738
8.3KJPN	JAPANESE	Study-wide	16760	C=0.98282	T=0.01718
Allele Frequency Aggregator	Total	Global	14976	C=1.00000	T=0.00000
Allele Frequency Aggregator	European	Sub	9824	C=1.0000	T=0.0000
Allele Frequency Aggregator	African	Sub	3364	C=1.0000	T=0.0000
Allele Frequency Aggregator	Other	Sub	830	C=1.000	T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	T=0.000
Allele Frequency Aggregator	Asian	Sub	104	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.9936	T=0.0064
1000Genomes_30x	African	Sub	1786	C=1.0000	T=0.0000
1000Genomes_30x	Europe	Sub	1266	C=1.0000	T=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=0.9650	T=0.0350
1000Genomes_30x	American	Sub	980	C=1.000	T=0.000
1000Genomes	Global	Study-wide	5008	C=0.9932	T=0.0068
1000Genomes	African	Sub	1322	C=1.0000	T=0.0000
1000Genomes	East Asian	Sub	1008	C=0.9663	T=0.0337
1000Genomes	Europe	Sub	1006	C=1.0000	T=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=1.000	T=0.000
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9754	T=0.0246
Genome-wide autozygosity in Daghestan	Global	Study-wide	1126	C=0.9973	T=0.0027
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.998	T=0.002
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	C=1.000	T=0.000
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	C=0.983	T=0.017
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=1.000	T=0.000
Genome-wide autozygosity in Daghestan	South Asian	Sub	94	C=1.00	T=0.00
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=1.00	T=0.00
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.981	T=0.019
SGDP_PRJ	Global	Study-wide	4	C=0.5	T=0.5

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 16	NC_000016.10:g.16014822C>T
GRCh37.p13 chr 16	NC_000016.9:g.16108679C>T
ABCC1 RefSeqGene	NG_028268.2:g.70246C>T
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1672698C>T

Gene: ABCC1, ATP binding cassette subfamily C member 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC1 transcript variant 1	NM_004996.4:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X8	XM_011522497.2:c.465+194C… XM_011522497.2:c.465+194C>T	N/A	Intron Variant
ABCC1 transcript variant X2	XM_017023237.2:c.543+194C… XM_017023237.2:c.543+194C>T	N/A	Intron Variant
ABCC1 transcript variant X1	XM_047434131.1:c.648+194C… XM_047434131.1:c.648+194C>T	N/A	Intron Variant
ABCC1 transcript variant X3	XM_047434132.1:c.648+194C… XM_047434132.1:c.648+194C>T	N/A	Intron Variant
ABCC1 transcript variant X4	XM_047434133.1:c.511-1674… XM_047434133.1:c.511-1674C>T	N/A	Intron Variant
ABCC1 transcript variant X5	XM_047434134.1:c.507+194C… XM_047434134.1:c.507+194C>T	N/A	Intron Variant
ABCC1 transcript variant X6	XM_047434135.1:c.648+194C… XM_047434135.1:c.648+194C>T	N/A	Intron Variant
ABCC1 transcript variant X7	XM_047434136.1:c.648+194C… XM_047434136.1:c.648+194C>T	N/A	Intron Variant
ABCC1 transcript variant X9	XM_047434137.1:c.510+4921… XM_047434137.1:c.510+4921C>T	N/A	Intron Variant
ABCC1 transcript variant X10	XM_047434138.1:c.489+194C… XM_047434138.1:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X11	XM_047434140.1:c.352-1674… XM_047434140.1:c.352-1674C>T	N/A	Intron Variant
ABCC1 transcript variant X12	XM_047434141.1:c.489+194C… XM_047434141.1:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X13	XM_047434142.1:c.648+194C… XM_047434142.1:c.648+194C>T	N/A	Intron Variant
ABCC1 transcript variant X14	XM_047434143.1:c.489+194C… XM_047434143.1:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X14	XM_047434144.1:c.648+194C… XM_047434144.1:c.648+194C>T	N/A	Intron Variant
ABCC1 transcript variant X15	XM_047434145.1:c.351+4921… XM_047434145.1:c.351+4921C>T	N/A	Intron Variant
ABCC1 transcript variant X16	XM_047434146.1:c.489+194C… XM_047434146.1:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X17	XM_047434147.1:c.489+194C… XM_047434147.1:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X18	XM_047434148.1:c.489+194C… XM_047434148.1:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X19	XM_047434149.1:c.489+194C… XM_047434149.1:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X20	XM_047434151.1:c.351+4921… XM_047434151.1:c.351+4921C>T	N/A	Intron Variant
ABCC1 transcript variant X21	XM_047434152.1:c.352-1674… XM_047434152.1:c.352-1674C>T	N/A	Intron Variant
ABCC1 transcript variant X22	XM_047434153.1:c.489+194C… XM_047434153.1:c.489+194C>T	N/A	Intron Variant
ABCC1 transcript variant X23	XM_047434154.1:c.489+194C… XM_047434154.1:c.489+194C>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=	T
GRCh38.p14 chr 16	NC_000016.10:g.16014822=	NC_000016.10:g.16014822C>T
GRCh37.p13 chr 16	NC_000016.9:g.16108679=	NC_000016.9:g.16108679C>T
ABCC1 RefSeqGene	NG_028268.2:g.70246=	NG_028268.2:g.70246C>T
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1672698=	NT_187607.1:g.1672698C>T
ABCC1 transcript	NM_004996.3:c.489+194=	NM_004996.3:c.489+194C>T
ABCC1 transcript variant 1	NM_004996.4:c.489+194=	NM_004996.4:c.489+194C>T
ABCC1 transcript variant X1	XM_005255326.1:c.489+194=	XM_005255326.1:c.489+194C>T
ABCC1 transcript variant X2	XM_005255327.1:c.489+194=	XM_005255327.1:c.489+194C>T
ABCC1 transcript variant X3	XM_005255328.1:c.352-1674=	XM_005255328.1:c.352-1674C>T
ABCC1 transcript variant X4	XM_005255329.1:c.489+194=	XM_005255329.1:c.489+194C>T
ABCC1 transcript variant X8	XM_011522497.2:c.465+194=	XM_011522497.2:c.465+194C>T
ABCC1 transcript variant X2	XM_017023237.2:c.543+194=	XM_017023237.2:c.543+194C>T
ABCC1 transcript variant X1	XM_047434131.1:c.648+194=	XM_047434131.1:c.648+194C>T
ABCC1 transcript variant X3	XM_047434132.1:c.648+194=	XM_047434132.1:c.648+194C>T
ABCC1 transcript variant X4	XM_047434133.1:c.511-1674=	XM_047434133.1:c.511-1674C>T
ABCC1 transcript variant X5	XM_047434134.1:c.507+194=	XM_047434134.1:c.507+194C>T
ABCC1 transcript variant X6	XM_047434135.1:c.648+194=	XM_047434135.1:c.648+194C>T
ABCC1 transcript variant X7	XM_047434136.1:c.648+194=	XM_047434136.1:c.648+194C>T
ABCC1 transcript variant X9	XM_047434137.1:c.510+4921=	XM_047434137.1:c.510+4921C>T
ABCC1 transcript variant X10	XM_047434138.1:c.489+194=	XM_047434138.1:c.489+194C>T
ABCC1 transcript variant X11	XM_047434140.1:c.352-1674=	XM_047434140.1:c.352-1674C>T
ABCC1 transcript variant X12	XM_047434141.1:c.489+194=	XM_047434141.1:c.489+194C>T
ABCC1 transcript variant X13	XM_047434142.1:c.648+194=	XM_047434142.1:c.648+194C>T
ABCC1 transcript variant X14	XM_047434143.1:c.489+194=	XM_047434143.1:c.489+194C>T
ABCC1 transcript variant X14	XM_047434144.1:c.648+194=	XM_047434144.1:c.648+194C>T
ABCC1 transcript variant X15	XM_047434145.1:c.351+4921=	XM_047434145.1:c.351+4921C>T
ABCC1 transcript variant X16	XM_047434146.1:c.489+194=	XM_047434146.1:c.489+194C>T
ABCC1 transcript variant X17	XM_047434147.1:c.489+194=	XM_047434147.1:c.489+194C>T
ABCC1 transcript variant X18	XM_047434148.1:c.489+194=	XM_047434148.1:c.489+194C>T
ABCC1 transcript variant X19	XM_047434149.1:c.489+194=	XM_047434149.1:c.489+194C>T
ABCC1 transcript variant X20	XM_047434151.1:c.351+4921=	XM_047434151.1:c.351+4921C>T
ABCC1 transcript variant X21	XM_047434152.1:c.352-1674=	XM_047434152.1:c.352-1674C>T
ABCC1 transcript variant X22	XM_047434153.1:c.489+194=	XM_047434153.1:c.489+194C>T
ABCC1 transcript variant X23	XM_047434154.1:c.489+194=	XM_047434154.1:c.489+194C>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#.

32 SubSNP, 11 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EGP_SNPS	ss69356636	May 18, 2007 (127)
2	GMI	ss282457036	May 04, 2012 (137)
3	1000GENOMES	ss339144253	May 09, 2011 (134)
4	SSMP	ss660561230	Apr 25, 2013 (138)
5	1000GENOMES	ss1355593132	Aug 21, 2014 (142)
6	HAMMER_LAB	ss1397711916	Sep 08, 2015 (146)
7	HUMAN_LONGEVITY	ss2211026876	Dec 20, 2016 (150)
8	GRF	ss2701574508	Nov 08, 2017 (151)
9	GNOMAD	ss2940914303	Nov 08, 2017 (151)
10	ILLUMINA	ss3021689016	Nov 08, 2017 (151)
11	ILLUMINA	ss3652095470	Oct 12, 2018 (152)
12	EVA_DECODE	ss3698942847	Jul 13, 2019 (153)
13	ILLUMINA	ss3725548312	Jul 13, 2019 (153)
14	EVA	ss3753749853	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3819043967	Jul 13, 2019 (153)
16	SGDP_PRJ	ss3884055495	Apr 27, 2020 (154)
17	KRGDB	ss3933366626	Apr 27, 2020 (154)
18	TOPMED	ss5009544285	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5218671042	Apr 26, 2021 (155)
20	EVA	ss5237561212	Apr 26, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5300323167	Oct 17, 2022 (156)
22	EVA	ss5422646832	Oct 17, 2022 (156)
23	HUGCELL_USP	ss5493822905	Oct 17, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5602640083	Oct 17, 2022 (156)
25	SANFORD_IMAGENETICS	ss5624376113	Oct 17, 2022 (156)
26	SANFORD_IMAGENETICS	ss5658570473	Oct 17, 2022 (156)
27	TOMMO_GENOMICS	ss5773224283	Oct 17, 2022 (156)
28	YY_MCH	ss5815803585	Oct 17, 2022 (156)
29	EVA	ss5847765212	Oct 17, 2022 (156)
30	EVA	ss5898488060	Oct 17, 2022 (156)
31	EVA	ss5950000057	Oct 17, 2022 (156)
32	EVA	ss5979480061	Oct 17, 2022 (156)
33	1000Genomes	NC_000016.9 - 16108679	Oct 12, 2018 (152)
34	1000Genomes_30x	NC_000016.10 - 16014822	Oct 17, 2022 (156)
35	Genome-wide autozygosity in Daghestan	NC_000016.8 - 16016180	Apr 27, 2020 (154)
36	gnomAD - Genomes	NC_000016.10 - 16014822	Apr 26, 2021 (155)
37	KOREAN population from KRGDB	NC_000016.9 - 16108679	Apr 27, 2020 (154)
38	SGDP_PRJ	NC_000016.9 - 16108679	Apr 27, 2020 (154)
39	8.3KJPN	NC_000016.9 - 16108679	Apr 26, 2021 (155)
40	14KJPN	NC_000016.10 - 16014822	Oct 17, 2022 (156)
41	TopMed	NC_000016.10 - 16014822	Apr 26, 2021 (155)
42	A Vietnamese Genetic Variation Database	NC_000016.9 - 16108679	Jul 13, 2019 (153)
43	ALFA	NC_000016.10 - 16014822	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
181948, ss282457036, ss1397711916	NC_000016.8:16016179:C:T	NC_000016.10:16014821:C:T	(self)
68734669, 40544020, 36072475, 76640349, 8477990, ss339144253, ss660561230, ss1355593132, ss2701574508, ss2940914303, ss3021689016, ss3652095470, ss3753749853, ss3884055495, ss3933366626, ss5218671042, ss5237561212, ss5422646832, ss5624376113, ss5658570473, ss5847765212, ss5950000057, ss5979480061	NC_000016.9:16108678:C:T	NC_000016.10:16014821:C:T	(self)
90166018, 484356297, 107061387, 225089946, 449408702, ss2211026876, ss3698942847, ss3725548312, ss3819043967, ss5009544285, ss5300323167, ss5493822905, ss5602640083, ss5773224283, ss5815803585, ss5898488060	NC_000016.10:16014821:C:T	NC_000016.10:16014821:C:T	(self)
ss69356636	NT_010393.16:16048678:C:T	NC_000016.10:16014821: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 rs45627432

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

rs45627432