Name: rs36030018
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.

rs36030018

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32700187 (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: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.057139 (15124/264690, TOPMED)
C=0.055907 (7812/139732, GnomAD)
C=0.15588 (4404/28252, 14KJPN) (+ 14 more)
C=0.04627 (874/18890, ALFA)
C=0.15567 (2609/16760, 8.3KJPN)
C=0.0615 (394/6404, 1000G_30x)
C=0.0627 (314/5008, 1000G)
C=0.0627 (281/4480, Estonian)
C=0.0122 (47/3854, ALSPAC)
C=0.0151 (56/3708, TWINSUK)
C=0.1112 (325/2922, KOREAN)
C=0.019 (19/998, GoNL)
C=0.088 (53/600, NorthernSweden)
C=0.028 (6/216, Qatari)
G=0.47 (38/80, SGDP_PRJ)
G=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	18890	G=0.95373	C=0.04627
European	Sub	14286	G=0.96290	C=0.03710
African	Sub	2946	G=0.9267	C=0.0733
African Others	Sub	114	G=0.904	C=0.096
African American	Sub	2832	G=0.9276	C=0.0724
Asian	Sub	112	G=0.938	C=0.062
East Asian	Sub	86	G=0.94	C=0.06
Other Asian	Sub	26	G=0.92	C=0.08
Latin American 1	Sub	146	G=0.945	C=0.055
Latin American 2	Sub	610	G=0.874	C=0.126
South Asian	Sub	98	G=0.99	C=0.01
Other	Sub	692	G=0.949	C=0.051

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	G=0.942861	C=0.057139
gnomAD - Genomes	Global	Study-wide	139732	G=0.944093	C=0.055907
gnomAD - Genomes	European	Sub	75694	G=0.95983	C=0.04017
gnomAD - Genomes	African	Sub	41848	G=0.92693	C=0.07307
gnomAD - Genomes	American	Sub	13590	G=0.90500	C=0.09500
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.9810	C=0.0190
gnomAD - Genomes	East Asian	Sub	3130	G=0.9217	C=0.0783
gnomAD - Genomes	Other	Sub	2150	G=0.9470	C=0.0530
14KJPN	JAPANESE	Study-wide	28252	G=0.84412	C=0.15588
Allele Frequency Aggregator	Total	Global	18890	G=0.95373	C=0.04627
Allele Frequency Aggregator	European	Sub	14286	G=0.96290	C=0.03710
Allele Frequency Aggregator	African	Sub	2946	G=0.9267	C=0.0733
Allele Frequency Aggregator	Other	Sub	692	G=0.949	C=0.051
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.874	C=0.126
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.945	C=0.055
Allele Frequency Aggregator	Asian	Sub	112	G=0.938	C=0.062
Allele Frequency Aggregator	South Asian	Sub	98	G=0.99	C=0.01
8.3KJPN	JAPANESE	Study-wide	16760	G=0.84433	C=0.15567
1000Genomes_30x	Global	Study-wide	6404	G=0.9385	C=0.0615
1000Genomes_30x	African	Sub	1786	G=0.9205	C=0.0795
1000Genomes_30x	Europe	Sub	1266	G=0.9494	C=0.0506
1000Genomes_30x	South Asian	Sub	1202	G=0.9875	C=0.0125
1000Genomes_30x	East Asian	Sub	1170	G=0.9376	C=0.0624
1000Genomes_30x	American	Sub	980	G=0.898	C=0.102
1000Genomes	Global	Study-wide	5008	G=0.9373	C=0.0627
1000Genomes	African	Sub	1322	G=0.9206	C=0.0794
1000Genomes	East Asian	Sub	1008	G=0.9345	C=0.0655
1000Genomes	Europe	Sub	1006	G=0.9423	C=0.0577
1000Genomes	South Asian	Sub	978	G=0.989	C=0.011
1000Genomes	American	Sub	694	G=0.893	C=0.107
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9373	C=0.0627
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9878	C=0.0122
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9849	C=0.0151
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.8888	C=0.1112
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.981	C=0.019
Northern Sweden	ACPOP	Study-wide	600	G=0.912	C=0.088
Qatari	Global	Study-wide	216	G=0.972	C=0.028
SGDP_PRJ	Global	Study-wide	80	G=0.47	C=0.53
Siberian	Global	Study-wide	4	G=0.5	C=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 6	NC_000006.12:g.32700187G>A
GRCh38.p14 chr 6	NC_000006.12:g.32700187G>C
GRCh37.p13 chr 6	NC_000006.11:g.32667964G>A
GRCh37.p13 chr 6	NC_000006.11:g.32667964G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4113505G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4113505G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4113611G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4113611G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3894469G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3894469G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3900065G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3900065G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3944802G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3944802G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3950387G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3950387G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4100807G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4100807G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4100105G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4100105G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4120013G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4120013G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4125633G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4125633G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3999437G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3999437G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4005022G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4005022G>C

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	G=	A	C
GRCh38.p14 chr 6	NC_000006.12:g.32700187=	NC_000006.12:g.32700187G>A	NC_000006.12:g.32700187G>C
GRCh37.p13 chr 6	NC_000006.11:g.32667964=	NC_000006.11:g.32667964G>A	NC_000006.11:g.32667964G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4113505=	NT_113891.3:g.4113505G>A	NT_113891.3:g.4113505G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4113611=	NT_113891.2:g.4113611G>A	NT_113891.2:g.4113611G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3894469=	NT_167248.2:g.3894469G>A	NT_167248.2:g.3894469G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3900065=	NT_167248.1:g.3900065G>A	NT_167248.1:g.3900065G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3944802=	NT_167245.2:g.3944802G>A	NT_167245.2:g.3944802G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3950387=	NT_167245.1:g.3950387G>A	NT_167245.1:g.3950387G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4100807=	NT_167249.2:g.4100807G>A	NT_167249.2:g.4100807G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4100105=	NT_167249.1:g.4100105G>A	NT_167249.1:g.4100105G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4120013=	NT_167246.2:g.4120013G>A	NT_167246.2:g.4120013G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4125633=	NT_167246.1:g.4125633G>A	NT_167246.1:g.4125633G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3999437=	NT_167247.2:g.3999437G>A	NT_167247.2:g.3999437G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4005022=	NT_167247.1:g.4005022G>A	NT_167247.1:g.4005022G>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#.

39 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42804102	Mar 15, 2006 (126)
2	1000GENOMES	ss222318131	Jul 14, 2010 (137)
3	1000GENOMES	ss240482487	Jul 15, 2010 (137)
4	GMI	ss278741192	May 04, 2012 (137)
5	TISHKOFF	ss559120588	Apr 25, 2013 (138)
6	SSMP	ss653051923	Apr 25, 2013 (138)
7	EVA-GONL	ss982785883	Aug 21, 2014 (142)
8	1000GENOMES	ss1319597524	Aug 21, 2014 (142)
9	EVA_UK10K_ALSPAC	ss1615291931	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1658285964	Apr 01, 2015 (144)
11	WEILL_CORNELL_DGM	ss1926043606	Feb 12, 2016 (147)
12	GENOMED	ss1970363989	Jul 19, 2016 (147)
13	JJLAB	ss2023656502	Sep 14, 2016 (149)
14	USC_VALOUEV	ss2151832183	Dec 20, 2016 (150)
15	GRF	ss2707426909	Nov 08, 2017 (151)
16	GNOMAD	ss2837517394	Nov 08, 2017 (151)
17	SWEGEN	ss2998840623	Nov 08, 2017 (151)
18	EGCUT_WGS	ss3666728370	Jul 13, 2019 (153)
19	EVA_DECODE	ss3716938784	Jul 13, 2019 (153)
20	ACPOP	ss3733381251	Jul 13, 2019 (153)
21	EVA	ss3764846161	Jul 13, 2019 (153)
22	KHV_HUMAN_GENOMES	ss3808002338	Jul 13, 2019 (153)
23	EVA	ss3829850173	Apr 26, 2020 (154)
24	SGDP_PRJ	ss3864301819	Apr 26, 2020 (154)
25	KRGDB	ss3911079799	Apr 26, 2020 (154)
26	VINODS	ss4025294353	Apr 26, 2021 (155)
27	TOPMED	ss4698584359	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5176910609	Apr 26, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5267972663	Oct 13, 2022 (156)
30	TRAN_CS_UWATERLOO	ss5314416108	Oct 13, 2022 (156)
31	EVA	ss5364778278	Oct 13, 2022 (156)
32	EVA	ss5508437452	Oct 13, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5553647891	Oct 13, 2022 (156)
34	SANFORD_IMAGENETICS	ss5640130462	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5714780763	Oct 13, 2022 (156)
36	YY_MCH	ss5807343662	Oct 13, 2022 (156)
37	EVA	ss5842049941	Oct 13, 2022 (156)
38	EVA	ss5883277620	Oct 13, 2022 (156)
39	EVA	ss5968619749	Oct 13, 2022 (156)
40	1000Genomes	NC_000006.11 - 32667964	Oct 12, 2018 (152)
41	1000Genomes_30x	NC_000006.12 - 32700187	Oct 13, 2022 (156)
42	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 32667964	Oct 12, 2018 (152)
43	Genetic variation in the Estonian population	NC_000006.11 - 32667964	Oct 12, 2018 (152)
44	gnomAD - Genomes	NC_000006.12 - 32700187	Apr 26, 2021 (155)
45	Genome of the Netherlands Release 5	NC_000006.11 - 32667964	Apr 26, 2020 (154)
46	KOREAN population from KRGDB	NC_000006.11 - 32667964	Apr 26, 2020 (154)
47	Northern Sweden	NC_000006.11 - 32667964	Jul 13, 2019 (153)
48	Qatari	NC_000006.11 - 32667964	Apr 26, 2020 (154)
49	SGDP_PRJ	NC_000006.11 - 32667964	Apr 26, 2020 (154)
50	Siberian	NC_000006.11 - 32667964	Apr 26, 2020 (154)
51	8.3KJPN	NC_000006.11 - 32667964	Apr 26, 2021 (155)
52	14KJPN	NC_000006.12 - 32700187	Oct 13, 2022 (156)
53	TopMed	NC_000006.12 - 32700187	Apr 26, 2021 (155)
54	UK 10K study - Twins	NC_000006.11 - 32667964	Oct 12, 2018 (152)
55	ALFA	NC_000006.12 - 32700187	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)
rs114735021	May 04, 2012 (137)
rs117758943	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2837517394	NC_000006.11:32667963:G:A	NC_000006.12:32700186:G:A	(self)
ss278741192	NC_000006.10:32775941:G:C	NC_000006.12:32700186:G:C	(self)
31366310, 17483432, 12466618, 7780333, 18257193, 6666116, 8085536, 16318799, 4348537, 34879916, 17483432, ss222318131, ss240482487, ss559120588, ss653051923, ss982785883, ss1319597524, ss1615291931, ss1658285964, ss1926043606, ss1970363989, ss2023656502, ss2151832183, ss2707426909, ss2837517394, ss2998840623, ss3666728370, ss3733381251, ss3764846161, ss3829850173, ss3864301819, ss3911079799, ss5176910609, ss5364778278, ss5508437452, ss5640130462, ss5842049941, ss5968619749	NC_000006.11:32667963:G:C	NC_000006.12:32700186:G:C	(self)
41173826, 221431367, 48617867, 535961917, 3398451702, ss3716938784, ss3808002338, ss4698584359, ss5267972663, ss5314416108, ss5553647891, ss5714780763, ss5807343662, ss5883277620	NC_000006.12:32700186:G:C	NC_000006.12:32700186:G:C	(self)
ss42804102	NT_007592.15:32607963:G:C	NC_000006.12:32700186:G:C	(self)
ss4025294353	NT_167249.2:4100806:G:C	NC_000006.12:32700186:G: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 rs36030018

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

rs36030018