Name: rs11632348
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.

rs11632348

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:90104814 (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>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.442064 (117010/264690, TOPMED)
A=0.457970 (64125/140020, GnomAD)
C=0.48030 (14728/30664, ALFA) (+ 16 more)
A=0.28035 (7922/28258, 14KJPN)
A=0.28300 (4743/16760, 8.3KJPN)
A=0.3496 (2239/6404, 1000G_30x)
A=0.3486 (1746/5008, 1000G)
C=0.4723 (2116/4480, Estonian)
C=0.4344 (1674/3854, ALSPAC)
C=0.4258 (1579/3708, TWINSUK)
A=0.2201 (645/2930, KOREAN)
A=0.2265 (415/1832, Korea1K)
C=0.391 (390/998, GoNL)
C=0.475 (285/600, NorthernSweden)
C=0.348 (126/362, SGDP_PRJ)
A=0.292 (63/216, Qatari)
A=0.208 (45/216, Vietnamese)
C=0.33 (13/40, GENOME_DK)
C=0.39 (15/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IDH2-DT : Intron Variant
Publications: 1 citation
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	30664	C=0.48030	A=0.51970
European	Sub	24604	C=0.44342	A=0.55658
African	Sub	3138	C=0.7170	A=0.2830
African Others	Sub	124	C=0.742	A=0.258
African American	Sub	3014	C=0.7160	A=0.2840
Asian	Sub	126	C=0.730	A=0.270
East Asian	Sub	98	C=0.73	A=0.27
Other Asian	Sub	28	C=0.71	A=0.29
Latin American 1	Sub	164	C=0.543	A=0.457
Latin American 2	Sub	684	C=0.538	A=0.462
South Asian	Sub	114	C=0.684	A=0.316
Other	Sub	1834	C=0.5131	A=0.4869

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	C=0.557936	A=0.442064
gnomAD - Genomes	Global	Study-wide	140020	C=0.542030	A=0.457970
gnomAD - Genomes	European	Sub	75848	C=0.44216	A=0.55784
gnomAD - Genomes	African	Sub	41940	C=0.70465	A=0.29535
gnomAD - Genomes	American	Sub	13638	C=0.55235	A=0.44765
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.5340	A=0.4660
gnomAD - Genomes	East Asian	Sub	3126	C=0.7534	A=0.2466
gnomAD - Genomes	Other	Sub	2148	C=0.5326	A=0.4674
Allele Frequency Aggregator	Total	Global	30664	C=0.48030	A=0.51970
Allele Frequency Aggregator	European	Sub	24604	C=0.44342	A=0.55658
Allele Frequency Aggregator	African	Sub	3138	C=0.7170	A=0.2830
Allele Frequency Aggregator	Other	Sub	1834	C=0.5131	A=0.4869
Allele Frequency Aggregator	Latin American 2	Sub	684	C=0.538	A=0.462
Allele Frequency Aggregator	Latin American 1	Sub	164	C=0.543	A=0.457
Allele Frequency Aggregator	Asian	Sub	126	C=0.730	A=0.270
Allele Frequency Aggregator	South Asian	Sub	114	C=0.684	A=0.316
14KJPN	JAPANESE	Study-wide	28258	C=0.71965	A=0.28035
8.3KJPN	JAPANESE	Study-wide	16760	C=0.71700	A=0.28300
1000Genomes_30x	Global	Study-wide	6404	C=0.6504	A=0.3496
1000Genomes_30x	African	Sub	1786	C=0.7352	A=0.2648
1000Genomes_30x	Europe	Sub	1266	C=0.4763	A=0.5237
1000Genomes_30x	South Asian	Sub	1202	C=0.6772	A=0.3228
1000Genomes_30x	East Asian	Sub	1170	C=0.7598	A=0.2402
1000Genomes_30x	American	Sub	980	C=0.557	A=0.443
1000Genomes	Global	Study-wide	5008	C=0.6514	A=0.3486
1000Genomes	African	Sub	1322	C=0.7368	A=0.2632
1000Genomes	East Asian	Sub	1008	C=0.7490	A=0.2510
1000Genomes	Europe	Sub	1006	C=0.4771	A=0.5229
1000Genomes	South Asian	Sub	978	C=0.680	A=0.320
1000Genomes	American	Sub	694	C=0.559	A=0.441
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4723	A=0.5277
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4344	A=0.5656
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4258	A=0.5742
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7799	A=0.2201
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7735	A=0.2265
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.391	A=0.609
Northern Sweden	ACPOP	Study-wide	600	C=0.475	A=0.525
SGDP_PRJ	Global	Study-wide	362	C=0.348	A=0.652
Qatari	Global	Study-wide	216	C=0.708	A=0.292
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.792	A=0.208
The Danish reference pan genome	Danish	Study-wide	40	C=0.33	A=0.68
Siberian	Global	Study-wide	38	C=0.39	A=0.61

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 15	NC_000015.10:g.90104814C>A
GRCh37.p13 chr 15	NC_000015.9:g.90648046C>A
NADP(+ RefSeqGene (LRG_611)	NG_023302.1:g.2663G>T

Gene: IDH2-DT, IDH2 divergent transcript (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IDH2-DT transcript	NR_149130.1: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	C=	A
GRCh38.p14 chr 15	NC_000015.10:g.90104814=	NC_000015.10:g.90104814C>A
GRCh37.p13 chr 15	NC_000015.9:g.90648046=	NC_000015.9:g.90648046C>A
NADP(+ RefSeqGene (LRG_611)	NG_023302.1:g.2663=	NG_023302.1:g.2663G>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#.

76 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss16671761	Feb 28, 2004 (120)
2	ABI	ss43778575	Mar 15, 2006 (126)
3	HGSV	ss78394356	Dec 06, 2007 (129)
4	BCMHGSC_JDW	ss90248667	Mar 24, 2008 (129)
5	1000GENOMES	ss109027005	Jan 23, 2009 (130)
6	ILLUMINA-UK	ss118323881	Feb 14, 2009 (130)
7	ENSEMBL	ss132435068	Dec 01, 2009 (131)
8	ENSEMBL	ss136485445	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss171485821	Jul 04, 2010 (132)
10	BUSHMAN	ss201165458	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss207320413	Jul 04, 2010 (132)
12	1000GENOMES	ss211648880	Jul 14, 2010 (132)
13	1000GENOMES	ss227029820	Jul 14, 2010 (132)
14	1000GENOMES	ss236874855	Jul 15, 2010 (132)
15	1000GENOMES	ss243244069	Jul 15, 2010 (132)
16	BL	ss255190658	May 09, 2011 (134)
17	GMI	ss282358511	May 04, 2012 (137)
18	ILLUMINA	ss481750474	May 04, 2012 (137)
19	ILLUMINA	ss483453615	May 04, 2012 (137)
20	ILLUMINA	ss534379728	Sep 08, 2015 (146)
21	TISHKOFF	ss564642997	Apr 25, 2013 (138)
22	SSMP	ss660386471	Apr 25, 2013 (138)
23	ILLUMINA	ss778667860	Sep 08, 2015 (146)
24	ILLUMINA	ss781559757	Sep 08, 2015 (146)
25	ILLUMINA	ss834126149	Sep 08, 2015 (146)
26	EVA-GONL	ss992069882	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1080329264	Aug 21, 2014 (142)
28	1000GENOMES	ss1354567571	Aug 21, 2014 (142)
29	DDI	ss1427711763	Apr 01, 2015 (144)
30	EVA_GENOME_DK	ss1577746887	Apr 01, 2015 (144)
31	EVA_UK10K_ALSPAC	ss1633587521	Apr 01, 2015 (144)
32	EVA_UK10K_TWINSUK	ss1676581554	Apr 01, 2015 (144)
33	EVA_DECODE	ss1696098356	Apr 01, 2015 (144)
34	HAMMER_LAB	ss1808321961	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1935471461	Feb 12, 2016 (147)
36	GENOMED	ss1968171224	Jul 19, 2016 (147)
37	JJLAB	ss2028519271	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2156927642	Nov 08, 2017 (151)
39	HUMAN_LONGEVITY	ss2209013562	Dec 20, 2016 (150)
40	ILLUMINA	ss2633264965	Nov 08, 2017 (151)
41	GRF	ss2701414797	Nov 08, 2017 (151)
42	GNOMAD	ss2938073577	Nov 08, 2017 (151)
43	SWEGEN	ss3013733522	Nov 08, 2017 (151)
44	BIOINF_KMB_FNS_UNIBA	ss3028083114	Nov 08, 2017 (151)
45	CSHL	ss3351237028	Nov 08, 2017 (151)
46	ILLUMINA	ss3627427282	Oct 12, 2018 (152)
47	ILLUMINA	ss3631255346	Oct 12, 2018 (152)
48	EGCUT_WGS	ss3680864525	Jul 13, 2019 (153)
49	EVA_DECODE	ss3698435993	Jul 13, 2019 (153)
50	ACPOP	ss3741159209	Jul 13, 2019 (153)
51	EVA	ss3753430558	Jul 13, 2019 (153)
52	PACBIO	ss3787923992	Jul 13, 2019 (153)
53	PACBIO	ss3792923654	Jul 13, 2019 (153)
54	PACBIO	ss3797808276	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3818731642	Jul 13, 2019 (153)
56	EVA	ss3834369112	Apr 27, 2020 (154)
57	EVA	ss3840787411	Apr 27, 2020 (154)
58	EVA	ss3846277439	Apr 27, 2020 (154)
59	SGDP_PRJ	ss3883499713	Apr 27, 2020 (154)
60	KRGDB	ss3932750380	Apr 27, 2020 (154)
61	KOGIC	ss3976714924	Apr 27, 2020 (154)
62	TOPMED	ss5001077424	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5217493561	Apr 26, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5299416201	Oct 17, 2022 (156)
65	EVA	ss5315805369	Oct 17, 2022 (156)
66	EVA	ss5421012347	Oct 17, 2022 (156)
67	HUGCELL_USP	ss5493030846	Oct 17, 2022 (156)
68	1000G_HIGH_COVERAGE	ss5601304561	Oct 17, 2022 (156)
69	SANFORD_IMAGENETICS	ss5658055755	Oct 17, 2022 (156)
70	TOMMO_GENOMICS	ss5771692465	Oct 17, 2022 (156)
71	YY_MCH	ss5815578367	Oct 17, 2022 (156)
72	EVA	ss5828576290	Oct 17, 2022 (156)
73	EVA	ss5851404687	Oct 17, 2022 (156)
74	EVA	ss5876987441	Oct 17, 2022 (156)
75	EVA	ss5949478459	Oct 17, 2022 (156)
76	EVA	ss5980889180	Oct 17, 2022 (156)
77	1000Genomes	NC_000015.9 - 90648046	Oct 12, 2018 (152)
78	1000Genomes_30x	NC_000015.10 - 90104814	Oct 17, 2022 (156)
79	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 90648046	Oct 12, 2018 (152)
80	Genetic variation in the Estonian population	NC_000015.9 - 90648046	Oct 12, 2018 (152)
81	The Danish reference pan genome	NC_000015.9 - 90648046	Apr 27, 2020 (154)
82	gnomAD - Genomes	NC_000015.10 - 90104814	Apr 26, 2021 (155)
83	Genome of the Netherlands Release 5	NC_000015.9 - 90648046	Apr 27, 2020 (154)
84	KOREAN population from KRGDB	NC_000015.9 - 90648046	Apr 27, 2020 (154)
85	Korean Genome Project	NC_000015.10 - 90104814	Apr 27, 2020 (154)
86	Northern Sweden	NC_000015.9 - 90648046	Jul 13, 2019 (153)
87	Qatari	NC_000015.9 - 90648046	Apr 27, 2020 (154)
88	SGDP_PRJ	NC_000015.9 - 90648046	Apr 27, 2020 (154)
89	Siberian	NC_000015.9 - 90648046	Apr 27, 2020 (154)
90	8.3KJPN	NC_000015.9 - 90648046	Apr 26, 2021 (155)
91	14KJPN	NC_000015.10 - 90104814	Oct 17, 2022 (156)
92	TopMed	NC_000015.10 - 90104814	Apr 26, 2021 (155)
93	UK 10K study - Twins	NC_000015.9 - 90648046	Oct 12, 2018 (152)
94	A Vietnamese Genetic Variation Database	NC_000015.9 - 90648046	Jul 13, 2019 (153)
95	ALFA	NC_000015.10 - 90104814	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
ss78394356, ss90248667, ss109027005, ss118323881, ss171485821, ss201165458, ss207320413, ss211648880, ss255190658, ss282358511, ss483453615, ss1696098356	NC_000015.8:88449049:C:A	NC_000015.10:90104813:C:A	(self)
67678401, 37584884, 26602773, 3966137, 16769602, 39927774, 14444074, 17513391, 35516693, 9443996, 75462868, 37584884, 8354567, ss227029820, ss236874855, ss243244069, ss481750474, ss534379728, ss564642997, ss660386471, ss778667860, ss781559757, ss834126149, ss992069882, ss1080329264, ss1354567571, ss1427711763, ss1577746887, ss1633587521, ss1676581554, ss1808321961, ss1935471461, ss1968171224, ss2028519271, ss2156927642, ss2633264965, ss2701414797, ss2938073577, ss3013733522, ss3351237028, ss3627427282, ss3631255346, ss3680864525, ss3741159209, ss3753430558, ss3787923992, ss3792923654, ss3797808276, ss3834369112, ss3840787411, ss3883499713, ss3932750380, ss5217493561, ss5315805369, ss5421012347, ss5658055755, ss5828576290, ss5949478459, ss5980889180	NC_000015.9:90648045:C:A	NC_000015.10:90104813:C:A	(self)
88830496, 477158456, 33092925, 105529569, 216623084, 4060091708, ss2209013562, ss3028083114, ss3698435993, ss3818731642, ss3846277439, ss3976714924, ss5001077424, ss5299416201, ss5493030846, ss5601304561, ss5771692465, ss5815578367, ss5851404687, ss5876987441	NC_000015.10:90104813:C:A	NC_000015.10:90104813:C:A	(self)
ss16671761	NT_010274.15:5613572:C:A	NC_000015.10:90104813:C:A	(self)
ss43778575, ss132435068, ss136485445	NT_010274.17:5613572:C:A	NC_000015.10:90104813:C:A	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs11632348

PMID	Title	Author	Year	Journal
25355558	Genetic variations in IDH gene as prognosis predictors in TACE-treated hepatocellular carcinoma patients.	Zhang H et al.	2014	Medical oncology (Northwood, London, England)

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

rs11632348