Name: rs147885944
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.

rs147885944

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:48099464 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.020175 (5340/264690, TOPMED)
G=0.017309 (2427/140218, GnomAD)
G=0.01261 (242/19188, ALFA) (+ 12 more)
G=0.0158 (101/6404, 1000G_30x)
G=0.0152 (76/5008, 1000G)
G=0.0098 (44/4480, Estonian)
G=0.0086 (33/3854, ALSPAC)
G=0.0113 (42/3708, TWINSUK)
G=0.0003 (1/2922, KOREAN)
G=0.010 (10/998, GoNL)
G=0.003 (2/600, NorthernSweden)
G=0.023 (5/216, Qatari)
T=0.38 (9/24, SGDP_PRJ)
T=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABCC12 : 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	19188	T=0.98739	G=0.01261
European	Sub	14286	T=0.98726	G=0.01274
African	Sub	2970	T=0.9963	G=0.0037
African Others	Sub	114	T=1.000	G=0.000
African American	Sub	2856	T=0.9961	G=0.0039
Asian	Sub	116	T=0.991	G=0.009
East Asian	Sub	88	T=1.00	G=0.00
Other Asian	Sub	28	T=0.96	G=0.04
Latin American 1	Sub	154	T=0.987	G=0.013
Latin American 2	Sub	616	T=0.946	G=0.054
South Asian	Sub	98	T=0.97	G=0.03
Other	Sub	948	T=0.989	G=0.011

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=0.979825	G=0.020175
gnomAD - Genomes	Global	Study-wide	140218	T=0.982691	G=0.017309
gnomAD - Genomes	European	Sub	75938	T=0.98725	G=0.01275
gnomAD - Genomes	African	Sub	42030	T=0.99700	G=0.00300
gnomAD - Genomes	American	Sub	13650	T=0.91070	G=0.08930
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.9789	G=0.0211
gnomAD - Genomes	East Asian	Sub	3130	T=0.9994	G=0.0006
gnomAD - Genomes	Other	Sub	2152	T=0.9805	G=0.0195
Allele Frequency Aggregator	Total	Global	19188	T=0.98739	G=0.01261
Allele Frequency Aggregator	European	Sub	14286	T=0.98726	G=0.01274
Allele Frequency Aggregator	African	Sub	2970	T=0.9963	G=0.0037
Allele Frequency Aggregator	Other	Sub	948	T=0.989	G=0.011
Allele Frequency Aggregator	Latin American 2	Sub	616	T=0.946	G=0.054
Allele Frequency Aggregator	Latin American 1	Sub	154	T=0.987	G=0.013
Allele Frequency Aggregator	Asian	Sub	116	T=0.991	G=0.009
Allele Frequency Aggregator	South Asian	Sub	98	T=0.97	G=0.03
1000Genomes_30x	Global	Study-wide	6404	T=0.9842	G=0.0158
1000Genomes_30x	African	Sub	1786	T=0.9989	G=0.0011
1000Genomes_30x	Europe	Sub	1266	T=0.9889	G=0.0111
1000Genomes_30x	South Asian	Sub	1202	T=0.9775	G=0.0225
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	G=0.0000
1000Genomes_30x	American	Sub	980	T=0.941	G=0.059
1000Genomes	Global	Study-wide	5008	T=0.9848	G=0.0152
1000Genomes	African	Sub	1322	T=0.9985	G=0.0015
1000Genomes	East Asian	Sub	1008	T=1.0000	G=0.0000
1000Genomes	Europe	Sub	1006	T=0.9901	G=0.0099
1000Genomes	South Asian	Sub	978	T=0.978	G=0.022
1000Genomes	American	Sub	694	T=0.939	G=0.061
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9902	G=0.0098
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9914	G=0.0086
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9887	G=0.0113
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9997	G=0.0003
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.990	G=0.010
Northern Sweden	ACPOP	Study-wide	600	T=0.997	G=0.003
Qatari	Global	Study-wide	216	T=0.977	G=0.023
SGDP_PRJ	Global	Study-wide	24	T=0.38	G=0.62
Siberian	Global	Study-wide	2	T=0.5	G=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.48099464T>G
GRCh37.p13 chr 16	NC_000016.9:g.48133375T>G

Gene: ABCC12, ATP binding cassette subfamily C member 12 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC12 transcript variant 13	NM_001393797.1:c.3038+140… NM_001393797.1:c.3038+1408A>C	N/A	Intron Variant
ABCC12 transcript variant 1	NM_033226.3:c.3038+1408A>C	N/A	Intron Variant
ABCC12 transcript variant 11	NM_001393798.1:c.	N/A	Genic Upstream Transcript Variant
ABCC12 transcript variant 12	NM_001393799.1:c.	N/A	Genic Upstream Transcript Variant
ABCC12 transcript variant 2	NM_001392028.1:c.	N/A	Genic Downstream Transcript Variant
ABCC12 transcript variant 3	NR_171628.1:n.	N/A	Intron Variant
ABCC12 transcript variant 4	NR_171629.1:n.	N/A	Intron Variant
ABCC12 transcript variant 5	NR_171630.1:n.	N/A	Intron Variant
ABCC12 transcript variant 6	NR_171631.1:n.	N/A	Intron Variant
ABCC12 transcript variant 7	NR_171632.1:n.	N/A	Intron Variant
ABCC12 transcript variant 8	NR_171633.1:n.	N/A	Intron Variant
ABCC12 transcript variant 9	NR_171634.1:n.	N/A	Genic Upstream Transcript Variant
ABCC12 transcript variant 10	NR_171635.1:n.	N/A	Genic Upstream Transcript 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	T=	G
GRCh38.p14 chr 16	NC_000016.10:g.48099464=	NC_000016.10:g.48099464T>G
GRCh37.p13 chr 16	NC_000016.9:g.48133375=	NC_000016.9:g.48133375T>G
ABCC12 transcript variant 13	NM_001393797.1:c.3038+1408=	NM_001393797.1:c.3038+1408A>C
ABCC12 transcript	NM_033226.2:c.3038+1408=	NM_033226.2:c.3038+1408A>C
ABCC12 transcript variant 1	NM_033226.3:c.3038+1408=	NM_033226.3:c.3038+1408A>C

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#.

34 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss339256192	May 09, 2011 (134)
2	ILLUMINA	ss536064488	Sep 08, 2015 (146)
3	EVA-GONL	ss992460108	Aug 21, 2014 (142)
4	JMKIDD_LAB	ss1080600803	Aug 21, 2014 (142)
5	1000GENOMES	ss1356128372	Aug 21, 2014 (142)
6	EVA_UK10K_ALSPAC	ss1634357563	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1677351596	Apr 01, 2015 (144)
8	EVA_DECODE	ss1696492381	Apr 01, 2015 (144)
9	WEILL_CORNELL_DGM	ss1935894843	Feb 12, 2016 (147)
10	GENOMED	ss1968255013	Jul 19, 2016 (147)
11	JJLAB	ss2028729004	Sep 14, 2016 (149)
12	USC_VALOUEV	ss2157164764	Dec 20, 2016 (150)
13	HUMAN_LONGEVITY	ss2211911081	Dec 20, 2016 (150)
14	ILLUMINA	ss2633313775	Nov 08, 2017 (151)
15	GNOMAD	ss2942691312	Nov 08, 2017 (151)
16	SWEGEN	ss3014470640	Nov 08, 2017 (151)
17	CSHL	ss3351439906	Nov 08, 2017 (151)
18	ILLUMINA	ss3627515800	Oct 12, 2018 (152)
19	EGCUT_WGS	ss3681443325	Jul 13, 2019 (153)
20	EVA_DECODE	ss3699207367	Jul 13, 2019 (153)
21	ACPOP	ss3741487564	Jul 13, 2019 (153)
22	KHV_HUMAN_GENOMES	ss3819191655	Jul 13, 2019 (153)
23	EVA	ss3834556097	Apr 27, 2020 (154)
24	SGDP_PRJ	ss3884380183	Apr 27, 2020 (154)
25	KRGDB	ss3933858748	Apr 27, 2020 (154)
26	TOPMED	ss5014369765	Apr 26, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5300861376	Oct 17, 2022 (156)
28	EVA	ss5423525684	Oct 17, 2022 (156)
29	HUGCELL_USP	ss5494218631	Oct 17, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5603457522	Oct 17, 2022 (156)
31	SANFORD_IMAGENETICS	ss5658849094	Oct 17, 2022 (156)
32	EVA	ss5846371678	Oct 17, 2022 (156)
33	EVA	ss5898979960	Oct 17, 2022 (156)
34	EVA	ss5950234459	Oct 17, 2022 (156)
35	1000Genomes	NC_000016.9 - 48133375	Oct 12, 2018 (152)
36	1000Genomes_30x	NC_000016.10 - 48099464	Oct 17, 2022 (156)
37	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 48133375	Oct 12, 2018 (152)
38	Genetic variation in the Estonian population	NC_000016.9 - 48133375	Oct 12, 2018 (152)
39	gnomAD - Genomes	NC_000016.10 - 48099464	Apr 26, 2021 (155)
40	Genome of the Netherlands Release 5	NC_000016.9 - 48133375	Apr 27, 2020 (154)
41	KOREAN population from KRGDB	NC_000016.9 - 48133375	Apr 27, 2020 (154)
42	Northern Sweden	NC_000016.9 - 48133375	Jul 13, 2019 (153)
43	Qatari	NC_000016.9 - 48133375	Apr 27, 2020 (154)
44	SGDP_PRJ	NC_000016.9 - 48133375	Apr 27, 2020 (154)
45	Siberian	NC_000016.9 - 48133375	Apr 27, 2020 (154)
46	TopMed	NC_000016.10 - 48099464	Apr 26, 2021 (155)
47	UK 10K study - Twins	NC_000016.9 - 48133375	Oct 12, 2018 (152)
48	ALFA	NC_000016.10 - 48099464	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
ss1696492381	NC_000016.8:46690875:T:G	NC_000016.10:48099463:T:G	(self)
69287053, 38428243, 27181573, 17140959, 41036142, 14772429, 17936765, 36397163, 9681118, 38428243, ss339256192, ss536064488, ss992460108, ss1080600803, ss1356128372, ss1634357563, ss1677351596, ss1935894843, ss1968255013, ss2028729004, ss2157164764, ss2633313775, ss2942691312, ss3014470640, ss3351439906, ss3627515800, ss3681443325, ss3741487564, ss3834556097, ss3884380183, ss3933858748, ss5423525684, ss5658849094, ss5846371678, ss5950234459	NC_000016.9:48133374:T:G	NC_000016.10:48099463:T:G	(self)
90983457, 488752551, 229915426, 17186300772, ss2211911081, ss3699207367, ss3819191655, ss5014369765, ss5300861376, ss5494218631, ss5603457522, ss5898979960	NC_000016.10:48099463:T:G	NC_000016.10:48099463:T:G	(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 rs147885944

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

rs147885944