rs121913499

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121913499(C;T)

Make rs121913499(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

208248389

Gene

IDH1

is a	snp
is	mentioned by
dbSNP	rs121913499
dbSNP (classic)	rs121913499
ClinGen	rs121913499
ebi	rs121913499
HLI	rs121913499
Exac	rs121913499
Gnomad	rs121913499
Varsome	rs121913499
LitVar	rs121913499
Map	rs121913499
PheGenI	rs121913499
Biobank	rs121913499
1000 genomes	rs121913499
hgdp	rs121913499
ensembl	rs121913499
geneview	rs121913499
scholar	rs121913499
google	rs121913499
pharmgkb	rs121913499
gwascentral	rs121913499
openSNP	rs121913499
23andMe	rs121913499
SNPshot	rs121913499
SNPdbe	rs121913499
MSV3d	rs121913499
GWAS Ctlg	rs121913499

Max Magnitude

0

aka c.394C>T, p.Arg132Cys and R132C

IDH1 variants are sometimes observed as somatic mutations in some glioblastomas [PMID 18772396]

ClinVar
Risk	rs121913499(A;A) rs121913499(G;G) rs121913499(T;T)
Alt	rs121913499(A;A) rs121913499(G;G) rs121913499(T;T)
Reference	Rs121913499(C;C)
Significance	Pathogenic
Disease	Neoplasm of brain Adenocarcinoma of lung Neoplasm of breast Astrocytoma Hepatocellular carcinoma Medulloblastoma Multiple myeloma Malignant melanoma of skin Transitional cell carcinoma of the bladder Adenoid cystic carcinoma Colorectal Neoplasms Adenocarcinoma of prostate Brainstem glioma Glioblastoma Myelodysplastic syndrome Acute myeloid leukemia
Variation	info
Gene	IDH1
CLNDBN	Neoplasm of brain Adenocarcinoma of lung Neoplasm of breast Astrocytoma Hepatocellular carcinoma Medulloblastoma Multiple myeloma Malignant melanoma of skin Transitional cell carcinoma of the bladder Adenoid cystic carcinoma Colorectal Neoplasms Adenocarcinoma of prostate Brainstem glioma Glioblastoma Myelodysplastic syndrome Acute myeloid leukemia
Reversed	1
HGVS	NC_000002.11:g.209113113G>A; NC_000002.11:g.209113113G>C; NC_000002.11:g.209113113G>T
CLNSRC
CLNACC	RCV000418601.1, RCV000419656.1, RCV000420988.1, RCV000421691.1, RCV000426141.1, RCV000428207.1, RCV000429279.1, RCV000430360.1, RCV000434107.1, RCV000435816.1, RCV000436904.1, RCV000437909.1, RCV000438918.1, RCV000439965.1, RCV000441917.1, RCV000445302.1, RCV000417625.1, RCV000418685.1, RCV000419742.1, RCV000424071.1, RCV000425039.1, RCV000427476.1, RCV000427882.1, RCV000428941.1, RCV000434778.1, RCV000435299.1, RCV000436387.1, RCV000437708.1, RCV000440922.1, RCV000442058.1, RCV000444712.1, RCV000418324.1, RCV000423616.1, RCV000424342.1, RCV000424724.1, RCV000425839.1, RCV000426812.1, RCV000430064.1, RCV000431514.1, RCV000432144.1, RCV000434628.1, RCV000435988.1, RCV000437066.1, RCV000440287.1, RCV000441330.1, RCV000442342.1, RCV000445051.1,