Name: rs4512595
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.

rs4512595

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:78291535 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.036613 (9691/264690, TOPMED)
T=0.034644 (4858/140226, GnomAD)
T=0.01562 (605/38724, ALFA) (+ 15 more)
T=0.00000 (0/28258, 14KJPN)
T=0.00000 (0/16760, 8.3KJPN)
T=0.0370 (237/6404, 1000G_30x)
T=0.0357 (179/5008, 1000G)
T=0.0003 (1/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0000 (0/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.000 (0/600, NorthernSweden)
T=0.020 (11/558, SGDP_PRJ)
T=0.020 (6/300, HapMap)
T=0.014 (3/216, Qatari)
T=0.000 (0/214, Vietnamese)
T=0.00 (0/56, Siberian)
T=0.00 (0/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MGC27382 : 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	38724	T=0.01562	C=0.98438
European	Sub	28614	T=0.00087	C=0.99913
African	Sub	4938	T=0.1081	C=0.8919
African Others	Sub	180	T=0.106	C=0.894
African American	Sub	4758	T=0.1082	C=0.8918
Asian	Sub	438	T=0.000	C=1.000
East Asian	Sub	372	T=0.000	C=1.000
Other Asian	Sub	66	T=0.00	C=1.00
Latin American 1	Sub	514	T=0.025	C=0.975
Latin American 2	Sub	836	T=0.005	C=0.995
South Asian	Sub	162	T=0.000	C=1.000
Other	Sub	3222	T=0.0090	C=0.9910

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=0.036613	C=0.963387
gnomAD - Genomes	Global	Study-wide	140226	T=0.034644	C=0.965356
gnomAD - Genomes	European	Sub	75966	T=0.00039	C=0.99961
gnomAD - Genomes	African	Sub	42008	T=0.11017	C=0.88983
gnomAD - Genomes	American	Sub	13644	T=0.00931	C=0.99069
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.0042	C=0.9958
gnomAD - Genomes	East Asian	Sub	3132	T=0.0000	C=1.0000
gnomAD - Genomes	Other	Sub	2152	T=0.0274	C=0.9726
Allele Frequency Aggregator	Total	Global	38724	T=0.01562	C=0.98438
Allele Frequency Aggregator	European	Sub	28614	T=0.00087	C=0.99913
Allele Frequency Aggregator	African	Sub	4938	T=0.1081	C=0.8919
Allele Frequency Aggregator	Other	Sub	3222	T=0.0090	C=0.9910
Allele Frequency Aggregator	Latin American 2	Sub	836	T=0.005	C=0.995
Allele Frequency Aggregator	Latin American 1	Sub	514	T=0.025	C=0.975
Allele Frequency Aggregator	Asian	Sub	438	T=0.000	C=1.000
Allele Frequency Aggregator	South Asian	Sub	162	T=0.000	C=1.000
14KJPN	JAPANESE	Study-wide	28258	T=0.00000	C=1.00000
8.3KJPN	JAPANESE	Study-wide	16760	T=0.00000	C=1.00000
1000Genomes_30x	Global	Study-wide	6404	T=0.0370	C=0.9630
1000Genomes_30x	African	Sub	1786	T=0.1260	C=0.8740
1000Genomes_30x	Europe	Sub	1266	T=0.0008	C=0.9992
1000Genomes_30x	South Asian	Sub	1202	T=0.0000	C=1.0000
1000Genomes_30x	East Asian	Sub	1170	T=0.0000	C=1.0000
1000Genomes_30x	American	Sub	980	T=0.011	C=0.989
1000Genomes	Global	Study-wide	5008	T=0.0357	C=0.9643
1000Genomes	African	Sub	1322	T=0.1286	C=0.8714
1000Genomes	East Asian	Sub	1008	T=0.0000	C=1.0000
1000Genomes	Europe	Sub	1006	T=0.0010	C=0.9990
1000Genomes	South Asian	Sub	978	T=0.000	C=1.000
1000Genomes	American	Sub	694	T=0.012	C=0.988
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0003	C=0.9997
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0000	C=1.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0000	C=1.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0000	C=1.0000
Northern Sweden	ACPOP	Study-wide	600	T=0.000	C=1.000
SGDP_PRJ	Global	Study-wide	558	T=0.020	C=0.980
HapMap	Global	Study-wide	300	T=0.020	C=0.980
HapMap	American	Sub	112	T=0.000	C=1.000
HapMap	African	Sub	100	T=0.06	C=0.94
HapMap	Asian	Sub	88	T=0.00	C=1.00
Qatari	Global	Study-wide	216	T=0.014	C=0.986
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.000	C=1.000
Siberian	Global	Study-wide	56	T=0.00	C=1.00
The Danish reference pan genome	Danish	Study-wide	40	T=0.00	C=1.00

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.78291535T>C
GRCh37.p13 chr 1	NC_000001.10:g.78757219T>C

Gene: MGC27382, uncharacterized MGC27382 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MGC27382 transcript	NR_027310.2: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	T=	C
GRCh38.p14 chr 1	NC_000001.11:g.78291535=	NC_000001.11:g.78291535T>C
GRCh37.p13 chr 1	NC_000001.10:g.78757219=	NC_000001.10:g.78757219T>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#.

81 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss6081021	Feb 20, 2003 (111)
2	BCM_SSAHASNP	ss9851504	Jul 11, 2003 (116)
3	SC_SNP	ss13395368	Dec 05, 2003 (119)
4	WUGSC_SSAHASNP	ss14456623	Dec 05, 2003 (119)
5	CSHL-HAPMAP	ss17358014	Feb 27, 2004 (120)
6	SSAHASNP	ss20518488	Apr 05, 2004 (121)
7	ABI	ss41185325	Mar 15, 2006 (126)
8	HGSV	ss77364010	Dec 07, 2007 (129)
9	HGSV	ss78255057	Dec 07, 2007 (129)
10	HGSV	ss78869197	Dec 07, 2007 (129)
11	BCMHGSC_JDW	ss87559440	Mar 23, 2008 (129)
12	HUMANGENOME_JCVI	ss97950312	Feb 06, 2009 (130)
13	BGI	ss106579144	Feb 06, 2009 (130)
14	1000GENOMES	ss108334903	Jan 23, 2009 (130)
15	1000GENOMES	ss110683869	Jan 25, 2009 (130)
16	ILLUMINA-UK	ss118827040	Feb 14, 2009 (130)
17	ENSEMBL	ss138012383	Dec 01, 2009 (131)
18	ENSEMBL	ss138889877	Dec 01, 2009 (131)
19	GMI	ss155220928	Dec 01, 2009 (131)
20	ILLUMINA	ss160684157	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss163547767	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss164605723	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss166728844	Jul 04, 2010 (132)
24	BUSHMAN	ss198658428	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss205119531	Jul 04, 2010 (132)
26	1000GENOMES	ss218471721	Jul 14, 2010 (132)
27	1000GENOMES	ss230597729	Jul 14, 2010 (132)
28	1000GENOMES	ss238278438	Jul 15, 2010 (132)
29	GMI	ss275888160	May 04, 2012 (137)
30	GMI	ss284078723	Apr 25, 2013 (138)
31	PJP	ss290543587	May 09, 2011 (134)
32	ILLUMINA	ss481950851	Sep 08, 2015 (146)
33	TISHKOFF	ss554286740	Apr 25, 2013 (138)
34	SSMP	ss648149868	Apr 25, 2013 (138)
35	JMKIDD_LAB	ss1068014094	Aug 21, 2014 (142)
36	1000GENOMES	ss1291528136	Aug 21, 2014 (142)
37	DDI	ss1425863374	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1574168532	Apr 01, 2015 (144)
39	EVA_UK10K_ALSPAC	ss1600508960	Apr 01, 2015 (144)
40	EVA_UK10K_TWINSUK	ss1643502993	Apr 01, 2015 (144)
41	HAMMER_LAB	ss1794599001	Sep 08, 2015 (146)
42	WEILL_CORNELL_DGM	ss1918530228	Feb 12, 2016 (147)
43	GENOMED	ss1966785334	Jul 19, 2016 (147)
44	JJLAB	ss2019785536	Sep 14, 2016 (149)
45	USC_VALOUEV	ss2147801326	Dec 20, 2016 (150)
46	HUMAN_LONGEVITY	ss2163839687	Dec 20, 2016 (150)
47	SYSTEMSBIOZJU	ss2624403554	Nov 08, 2017 (151)
48	GRF	ss2697721614	Nov 08, 2017 (151)
49	GNOMAD	ss2756970005	Nov 08, 2017 (151)
50	SWEGEN	ss2987068412	Nov 08, 2017 (151)
51	BIOINF_KMB_FNS_UNIBA	ss3023654621	Nov 08, 2017 (151)
52	CSHL	ss3343526429	Nov 08, 2017 (151)
53	ILLUMINA	ss3636009008	Oct 11, 2018 (152)
54	URBANLAB	ss3646697744	Oct 11, 2018 (152)
55	EVA_DECODE	ss3687082354	Jul 12, 2019 (153)
56	ACPOP	ss3727185169	Jul 12, 2019 (153)
57	EVA	ss3746396682	Jul 12, 2019 (153)
58	PACBIO	ss3783453920	Jul 12, 2019 (153)
59	PACBIO	ss3789105447	Jul 12, 2019 (153)
60	PACBIO	ss3793978205	Jul 12, 2019 (153)
61	KHV_HUMAN_GENOMES	ss3799402341	Jul 12, 2019 (153)
62	EVA	ss3826252293	Apr 25, 2020 (154)
63	EVA	ss3836514417	Apr 25, 2020 (154)
64	EVA	ss3841921398	Apr 25, 2020 (154)
65	SGDP_PRJ	ss3849176089	Apr 25, 2020 (154)
66	KRGDB	ss3894222337	Apr 25, 2020 (154)
67	KOGIC	ss3944816577	Apr 25, 2020 (154)
68	TOPMED	ss4455460942	Apr 25, 2021 (155)
69	TOMMO_GENOMICS	ss5144658457	Apr 25, 2021 (155)
70	1000G_HIGH_COVERAGE	ss5242817138	Oct 12, 2022 (156)
71	EVA	ss5319748131	Oct 12, 2022 (156)
72	HUGCELL_USP	ss5443827175	Oct 12, 2022 (156)
73	1000G_HIGH_COVERAGE	ss5515389865	Oct 12, 2022 (156)
74	SANFORD_IMAGENETICS	ss5625843798	Oct 12, 2022 (156)
75	TOMMO_GENOMICS	ss5669633225	Oct 12, 2022 (156)
76	YY_MCH	ss5800732344	Oct 12, 2022 (156)
77	EVA	ss5832171103	Oct 12, 2022 (156)
78	EVA	ss5848972784	Oct 12, 2022 (156)
79	EVA	ss5908896736	Oct 12, 2022 (156)
80	EVA	ss5937689858	Oct 12, 2022 (156)
81	EVA	ss5979966670	Oct 12, 2022 (156)
82	1000Genomes	NC_000001.10 - 78757219	Oct 11, 2018 (152)
83	1000Genomes_30x	NC_000001.11 - 78291535	Oct 12, 2022 (156)
84	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 78757219	Oct 11, 2018 (152)
85	The Danish reference pan genome	NC_000001.10 - 78757219	Apr 25, 2020 (154)
86	gnomAD - Genomes	NC_000001.11 - 78291535	Apr 25, 2021 (155)
87	HapMap	NC_000001.11 - 78291535	Apr 25, 2020 (154)
88	KOREAN population from KRGDB	NC_000001.10 - 78757219	Apr 25, 2020 (154)
89	Korean Genome Project	NC_000001.11 - 78291535	Apr 25, 2020 (154)
90	Northern Sweden	NC_000001.10 - 78757219	Jul 12, 2019 (153)
91	Qatari	NC_000001.10 - 78757219	Apr 25, 2020 (154)
92	SGDP_PRJ	NC_000001.10 - 78757219	Apr 25, 2020 (154)
93	Siberian	NC_000001.10 - 78757219	Apr 25, 2020 (154)
94	8.3KJPN	NC_000001.10 - 78757219	Apr 25, 2021 (155)
95	14KJPN	NC_000001.11 - 78291535	Oct 12, 2022 (156)
96	TopMed	NC_000001.11 - 78291535	Apr 25, 2021 (155)
97	UK 10K study - Twins	NC_000001.10 - 78757219	Oct 11, 2018 (152)
98	A Vietnamese Genetic Variation Database	NC_000001.10 - 78757219	Jul 12, 2019 (153)
99	ALFA	NC_000001.11 - 78291535	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77364010, ss78255057, ss78869197	NC_000001.8:78469239:T:C	NC_000001.11:78291534:T:C	(self)
ss87559440, ss108334903, ss110683869, ss118827040, ss160684157, ss163547767, ss164605723, ss166728844, ss198658428, ss205119531, ss275888160, ss284078723, ss290543587	NC_000001.9:78529806:T:C	NC_000001.11:78291534:T:C	(self)
2269845, 1244853, 1567462, 1399731, 470034, 572158, 1193069, 317680, 2627764, 1244853, 263550, ss218471721, ss230597729, ss238278438, ss481950851, ss554286740, ss648149868, ss1068014094, ss1291528136, ss1425863374, ss1574168532, ss1600508960, ss1643502993, ss1794599001, ss1918530228, ss1966785334, ss2019785536, ss2147801326, ss2624403554, ss2697721614, ss2756970005, ss2987068412, ss3343526429, ss3636009008, ss3727185169, ss3746396682, ss3783453920, ss3789105447, ss3793978205, ss3826252293, ss3836514417, ss3849176089, ss3894222337, ss5144658457, ss5319748131, ss5625843798, ss5832171103, ss5937689858, ss5979966670	NC_000001.10:78757218:T:C	NC_000001.11:78291534:T:C	(self)
2915800, 16050879, 104634, 1194578, 3470329, 19067277, 10674869970, ss2163839687, ss3023654621, ss3646697744, ss3687082354, ss3799402341, ss3841921398, ss3944816577, ss4455460942, ss5242817138, ss5443827175, ss5515389865, ss5669633225, ss5800732344, ss5848972784, ss5908896736	NC_000001.11:78291534:T:C	NC_000001.11:78291534:T:C	(self)
ss9851504	NT_004483.15:426289:T:C	NC_000001.11:78291534:T:C	(self)
ss14456623, ss17358014, ss20518488	NT_026943.13:3577392:T:C	NC_000001.11:78291534:T:C	(self)
ss6081021, ss13395368, ss41185325, ss97950312, ss106579144, ss138012383, ss138889877, ss155220928	NT_032977.9:48729136:T:C	NC_000001.11:78291534:T:C	(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 rs4512595

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

rs4512595