Name: rs4148888
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.

rs4148888

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:99133041 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.120371 (31861/264690, TOPMED)
G=0.136005 (23661/173972, ALFA)
G=0.109237 (15308/140136, GnomAD) (+ 18 more)
A=0.26700 (7545/28258, 14KJPN)
A=0.26426 (4429/16760, 8.3KJPN)
G=0.2327 (1490/6404, 1000G_30x)
G=0.2510 (1257/5008, 1000G)
G=0.1167 (523/4480, Estonian)
G=0.1365 (526/3854, ALSPAC)
G=0.1278 (474/3708, TWINSUK)
A=0.3089 (905/2930, KOREAN)
A=0.2931 (537/1832, Korea1K)
G=0.2492 (445/1786, HapMap)
G=0.127 (127/998, GoNL)
G=0.085 (51/600, NorthernSweden)
G=0.139 (30/216, Qatari)
A=0.199 (43/216, Vietnamese)
A=0.362 (76/210, SGDP_PRJ)
G=0.12 (5/40, GENOME_DK)
A=0.50 (8/16, Siberian)
G=0.50 (8/16, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADH4 : Intron Variant
LOC100507053 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	173972	A=0.863995	G=0.136005	0.749259	0.021268	0.229474	26
European	Sub	150486	A=0.864705	G=0.135295	0.748123	0.018713	0.233165	1
African	Sub	5286	A=0.9635	G=0.0365	0.92849	0.001513	0.069996	0
African Others	Sub	194	A=0.974	G=0.026	0.948454	0.0	0.051546	0
African American	Sub	5092	A=0.9631	G=0.0369	0.92773	0.001571	0.070699	0
Asian	Sub	388	A=0.258	G=0.742	0.072165	0.556701	0.371134	0
East Asian	Sub	278	A=0.248	G=0.752	0.057554	0.561151	0.381295	0
Other Asian	Sub	110	A=0.282	G=0.718	0.109091	0.545455	0.345455	1
Latin American 1	Sub	484	A=0.870	G=0.130	0.760331	0.020661	0.219008	0
Latin American 2	Sub	6678	A=0.9178	G=0.0822	0.843366	0.007787	0.148847	0
South Asian	Sub	4992	A=0.7258	G=0.2742	0.532853	0.08133	0.385817	2
Other	Sub	5658	A=0.8517	G=0.1483	0.737363	0.033934	0.228703	14

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	A=0.879629	G=0.120371
Allele Frequency Aggregator	Total	Global	173972	A=0.863995	G=0.136005
Allele Frequency Aggregator	European	Sub	150486	A=0.864705	G=0.135295
Allele Frequency Aggregator	Latin American 2	Sub	6678	A=0.9178	G=0.0822
Allele Frequency Aggregator	Other	Sub	5658	A=0.8517	G=0.1483
Allele Frequency Aggregator	African	Sub	5286	A=0.9635	G=0.0365
Allele Frequency Aggregator	South Asian	Sub	4992	A=0.7258	G=0.2742
Allele Frequency Aggregator	Latin American 1	Sub	484	A=0.870	G=0.130
Allele Frequency Aggregator	Asian	Sub	388	A=0.258	G=0.742
gnomAD - Genomes	Global	Study-wide	140136	A=0.890763	G=0.109237
gnomAD - Genomes	European	Sub	75904	A=0.87790	G=0.12210
gnomAD - Genomes	African	Sub	42004	A=0.96736	G=0.03264
gnomAD - Genomes	American	Sub	13632	A=0.89407	G=0.10593
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.8237	G=0.1763
gnomAD - Genomes	East Asian	Sub	3124	A=0.2548	G=0.7452
gnomAD - Genomes	Other	Sub	2148	A=0.8552	G=0.1448
14KJPN	JAPANESE	Study-wide	28258	A=0.26700	G=0.73300
8.3KJPN	JAPANESE	Study-wide	16760	A=0.26426	G=0.73574
1000Genomes_30x	Global	Study-wide	6404	A=0.7673	G=0.2327
1000Genomes_30x	African	Sub	1786	A=0.9866	G=0.0134
1000Genomes_30x	Europe	Sub	1266	A=0.8720	G=0.1280
1000Genomes_30x	South Asian	Sub	1202	A=0.6922	G=0.3078
1000Genomes_30x	East Asian	Sub	1170	A=0.2684	G=0.7316
1000Genomes_30x	American	Sub	980	A=0.920	G=0.080
1000Genomes	Global	Study-wide	5008	A=0.7490	G=0.2510
1000Genomes	African	Sub	1322	A=0.9856	G=0.0144
1000Genomes	East Asian	Sub	1008	A=0.2659	G=0.7341
1000Genomes	Europe	Sub	1006	A=0.8698	G=0.1302
1000Genomes	South Asian	Sub	978	A=0.686	G=0.314
1000Genomes	American	Sub	694	A=0.914	G=0.086
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.8833	G=0.1167
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.8635	G=0.1365
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.8722	G=0.1278
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3089	G=0.6911
Korean Genome Project	KOREAN	Study-wide	1832	A=0.2931	G=0.7069
HapMap	Global	Study-wide	1786	A=0.7508	G=0.2492
HapMap	American	Sub	770	A=0.723	G=0.277
HapMap	African	Sub	586	A=0.952	G=0.048
HapMap	Asian	Sub	254	A=0.307	G=0.693
HapMap	Europe	Sub	176	A=0.841	G=0.159
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.873	G=0.127
Northern Sweden	ACPOP	Study-wide	600	A=0.915	G=0.085
Qatari	Global	Study-wide	216	A=0.861	G=0.139
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.199	G=0.801
SGDP_PRJ	Global	Study-wide	210	A=0.362	G=0.638
The Danish reference pan genome	Danish	Study-wide	40	A=0.88	G=0.12
Siberian	Global	Study-wide	16	A=0.50	G=0.50

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 4	NC_000004.12:g.99133041A>G
GRCh37.p13 chr 4	NC_000004.11:g.100054192A>G

Gene: ADH4, alcohol dehydrogenase 4 (class II), pi polypeptide (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADH4 transcript variant 3	NM_000670.5:c.583-1277T>C	N/A	Intron Variant
ADH4 transcript variant 1	NM_001306171.2:c.640-1277… NM_001306171.2:c.640-1277T>C	N/A	Intron Variant
ADH4 transcript variant 2	NM_001306172.2:c.640-1277… NM_001306172.2:c.640-1277T>C	N/A	Intron Variant

Gene: LOC100507053, uncharacterized LOC100507053 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100507053 transcript	NR_037884.1: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	A=	G
GRCh38.p14 chr 4	NC_000004.12:g.99133041=	NC_000004.12:g.99133041A>G
GRCh37.p13 chr 4	NC_000004.11:g.100054192=	NC_000004.11:g.100054192A>G
ADH4 transcript	NM_000670.3:c.583-1277=	NM_000670.3:c.583-1277T>C
ADH4 transcript variant 3	NM_000670.5:c.583-1277=	NM_000670.5:c.583-1277T>C
ADH4 transcript variant 1	NM_001306171.2:c.640-1277=	NM_001306171.2:c.640-1277T>C
ADH4 transcript variant 2	NM_001306172.2:c.640-1277=	NM_001306172.2:c.640-1277T>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#.

88 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	RIKENSNPRC	ss5603225	Dec 16, 2002 (110)
2	EGP_SNPS	ss35528016	May 25, 2005 (125)
3	ILLUMINA	ss75238405	Dec 06, 2007 (129)
4	BCMHGSC_JDW	ss92702957	Mar 24, 2008 (129)
5	BGI	ss104098922	Dec 01, 2009 (131)
6	KRIBB_YJKIM	ss119471287	Dec 01, 2009 (131)
7	ENSEMBL	ss139781728	Dec 01, 2009 (131)
8	ILLUMINA	ss154284164	Dec 01, 2009 (131)
9	ILLUMINA	ss159461070	Dec 01, 2009 (131)
10	ILLUMINA	ss160664537	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss166943033	Jul 04, 2010 (132)
12	ILLUMINA	ss173693925	Jul 04, 2010 (132)
13	BCM-HGSC-SUB	ss206349212	Jul 04, 2010 (132)
14	1000GENOMES	ss232514786	Jul 14, 2010 (132)
15	1000GENOMES	ss239779973	Jul 15, 2010 (132)
16	GMI	ss277844094	May 04, 2012 (137)
17	ILLUMINA	ss480899286	May 04, 2012 (137)
18	ILLUMINA	ss480918154	May 04, 2012 (137)
19	ILLUMINA	ss481872719	Sep 08, 2015 (146)
20	ILLUMINA	ss485244643	May 04, 2012 (137)
21	ILLUMINA	ss537217462	Sep 08, 2015 (146)
22	TISHKOFF	ss557720650	Apr 25, 2013 (138)
23	SSMP	ss651525242	Apr 25, 2013 (138)
24	ILLUMINA	ss783068266	Sep 08, 2015 (146)
25	ILLUMINA	ss784026157	Sep 08, 2015 (146)
26	ILLUMINA	ss832326350	Sep 08, 2015 (146)
27	ILLUMINA	ss832972573	Jul 13, 2019 (153)
28	ILLUMINA	ss834364608	Sep 08, 2015 (146)
29	EVA-GONL	ss980449254	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1071786567	Aug 21, 2014 (142)
31	1000GENOMES	ss1310977175	Aug 21, 2014 (142)
32	EVA_GENOME_DK	ss1580687049	Apr 01, 2015 (144)
33	EVA_DECODE	ss1589953275	Apr 01, 2015 (144)
34	EVA_UK10K_ALSPAC	ss1610734718	Apr 01, 2015 (144)
35	EVA_UK10K_TWINSUK	ss1653728751	Apr 01, 2015 (144)
36	EVA_SVP	ss1712693027	Apr 01, 2015 (144)
37	ILLUMINA	ss1752489075	Sep 08, 2015 (146)
38	WEILL_CORNELL_DGM	ss1923689443	Feb 12, 2016 (147)
39	GENOMED	ss1969816635	Jul 19, 2016 (147)
40	JJLAB	ss2022430609	Sep 14, 2016 (149)
41	USC_VALOUEV	ss2150559758	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2265419479	Dec 20, 2016 (150)
43	SYSTEMSBIOZJU	ss2625714297	Nov 08, 2017 (151)
44	ILLUMINA	ss2634154383	Nov 08, 2017 (151)
45	GRF	ss2706036776	Nov 08, 2017 (151)
46	GNOMAD	ss2812846416	Nov 08, 2017 (151)
47	SWEGEN	ss2995209274	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3024990521	Nov 08, 2017 (151)
49	CSHL	ss3345861412	Nov 08, 2017 (151)
50	ILLUMINA	ss3629025337	Oct 12, 2018 (152)
51	ILLUMINA	ss3632088766	Oct 12, 2018 (152)
52	ILLUMINA	ss3633343249	Oct 12, 2018 (152)
53	ILLUMINA	ss3634062550	Oct 12, 2018 (152)
54	ILLUMINA	ss3634963329	Oct 12, 2018 (152)
55	ILLUMINA	ss3635745278	Oct 12, 2018 (152)
56	ILLUMINA	ss3636667648	Oct 12, 2018 (152)
57	ILLUMINA	ss3637497815	Oct 12, 2018 (152)
58	ILLUMINA	ss3638501630	Oct 12, 2018 (152)
59	ILLUMINA	ss3640670623	Oct 12, 2018 (152)
60	ILLUMINA	ss3643451817	Oct 12, 2018 (152)
61	EGCUT_WGS	ss3663104997	Jul 13, 2019 (153)
62	EVA_DECODE	ss3712655461	Jul 13, 2019 (153)
63	ACPOP	ss3731421093	Jul 13, 2019 (153)
64	ILLUMINA	ss3745263590	Jul 13, 2019 (153)
65	EVA	ss3762166330	Jul 13, 2019 (153)
66	ILLUMINA	ss3772758130	Jul 13, 2019 (153)
67	KHV_HUMAN_GENOMES	ss3805314691	Jul 13, 2019 (153)
68	EVA	ss3828703086	Apr 26, 2020 (154)
69	SGDP_PRJ	ss3859609226	Apr 26, 2020 (154)
70	KRGDB	ss3905886604	Apr 26, 2020 (154)
71	KOGIC	ss3954741188	Apr 26, 2020 (154)
72	EVA	ss4017159474	Apr 26, 2021 (155)
73	TOPMED	ss4624614511	Apr 26, 2021 (155)
74	TOMMO_GENOMICS	ss5167075596	Apr 26, 2021 (155)
75	1000G_HIGH_COVERAGE	ss5260286385	Oct 13, 2022 (156)
76	EVA	ss5314977462	Oct 13, 2022 (156)
77	EVA	ss5350972285	Oct 13, 2022 (156)
78	HUGCELL_USP	ss5458929022	Oct 13, 2022 (156)
79	EVA	ss5507641070	Oct 13, 2022 (156)
80	1000G_HIGH_COVERAGE	ss5541952913	Oct 13, 2022 (156)
81	SANFORD_IMAGENETICS	ss5635664332	Oct 13, 2022 (156)
82	TOMMO_GENOMICS	ss5701805949	Oct 13, 2022 (156)
83	EVA	ss5799622188	Oct 13, 2022 (156)
84	YY_MCH	ss5805353532	Oct 13, 2022 (156)
85	EVA	ss5844423166	Oct 13, 2022 (156)
86	EVA	ss5854355711	Oct 13, 2022 (156)
87	EVA	ss5864674476	Oct 13, 2022 (156)
88	EVA	ss5964054905	Oct 13, 2022 (156)
89	1000Genomes	NC_000004.11 - 100054192	Oct 12, 2018 (152)
90	1000Genomes_30x	NC_000004.12 - 99133041	Oct 13, 2022 (156)
91	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 100054192	Oct 12, 2018 (152)
92	Genetic variation in the Estonian population	NC_000004.11 - 100054192	Oct 12, 2018 (152)
93	The Danish reference pan genome	NC_000004.11 - 100054192	Apr 26, 2020 (154)
94	gnomAD - Genomes	NC_000004.12 - 99133041	Apr 26, 2021 (155)
95	Genome of the Netherlands Release 5	NC_000004.11 - 100054192	Apr 26, 2020 (154)
96	HapMap	NC_000004.12 - 99133041	Apr 26, 2020 (154)
97	KOREAN population from KRGDB	NC_000004.11 - 100054192	Apr 26, 2020 (154)
98	Korean Genome Project	NC_000004.12 - 99133041	Apr 26, 2020 (154)
99	Northern Sweden	NC_000004.11 - 100054192	Jul 13, 2019 (153)
100	Qatari	NC_000004.11 - 100054192	Apr 26, 2020 (154)
101	SGDP_PRJ	NC_000004.11 - 100054192	Apr 26, 2020 (154)
102	Siberian	NC_000004.11 - 100054192	Apr 26, 2020 (154)
103	8.3KJPN	NC_000004.11 - 100054192	Apr 26, 2021 (155)
104	14KJPN	NC_000004.12 - 99133041	Oct 13, 2022 (156)
105	TopMed	NC_000004.12 - 99133041	Apr 26, 2021 (155)
106	UK 10K study - Twins	NC_000004.11 - 100054192	Oct 12, 2018 (152)
107	A Vietnamese Genetic Variation Database	NC_000004.11 - 100054192	Jul 13, 2019 (153)
108	ALFA	NC_000004.12 - 99133041	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)
rs386591509	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss92702957, ss166943033, ss206349212, ss277844094, ss480899286, ss1589953275, ss1712693027, ss3643451817	NC_000004.10:100273214:A:G	NC_000004.12:99133040:A:G	(self)
22419267, 12470755, 8843245, 6851988, 5512742, 13063998, 4705958, 5731373, 11626206, 3076112, 25044903, 12470755, 2744067, ss232514786, ss239779973, ss480918154, ss481872719, ss485244643, ss537217462, ss557720650, ss651525242, ss783068266, ss784026157, ss832326350, ss832972573, ss834364608, ss980449254, ss1071786567, ss1310977175, ss1580687049, ss1610734718, ss1653728751, ss1752489075, ss1923689443, ss1969816635, ss2022430609, ss2150559758, ss2625714297, ss2634154383, ss2706036776, ss2812846416, ss2995209274, ss3345861412, ss3629025337, ss3632088766, ss3633343249, ss3634062550, ss3634963329, ss3635745278, ss3636667648, ss3637497815, ss3638501630, ss3640670623, ss3663104997, ss3731421093, ss3745263590, ss3762166330, ss3772758130, ss3828703086, ss3859609226, ss3905886604, ss4017159474, ss5167075596, ss5314977462, ss5350972285, ss5507641070, ss5635664332, ss5799622188, ss5844423166, ss5964054905	NC_000004.11:100054191:A:G	NC_000004.12:99133040:A:G	(self)
29478848, 158812853, 2670127, 11119189, 35643053, 461992067, 7048512909, ss2265419479, ss3024990521, ss3712655461, ss3805314691, ss3954741188, ss4624614511, ss5260286385, ss5458929022, ss5541952913, ss5701805949, ss5805353532, ss5854355711, ss5864674476	NC_000004.12:99133040:A:G	NC_000004.12:99133040:A:G	(self)
ss5603225, ss35528016, ss75238405, ss104098922, ss119471287, ss139781728, ss154284164, ss159461070, ss160664537, ss173693925	NT_016354.19:24601912:A:G	NC_000004.12:99133040:A: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 rs4148888

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

rs4148888