Have questions? Visit https://www.reddit.com/r/SNPedia

rs201372601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201372601(G;T)
Make rs201372601(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position112094969
GeneSDHD
is asnp
is mentioned by
dbSNPrs201372601
dbSNP (classic)rs201372601
ClinGenrs201372601
ebirs201372601
HLIrs201372601
Exacrs201372601
Gnomadrs201372601
Varsomers201372601
LitVarrs201372601
Maprs201372601
PheGenIrs201372601
Biobankrs201372601
1000 genomesrs201372601
hgdprs201372601
ensemblrs201372601
geneviewrs201372601
scholarrs201372601
googlers201372601
pharmgkbrs201372601
gwascentralrs201372601
openSNPrs201372601
23andMers201372601
SNPshotrs201372601
SNPdbers201372601
MSV3drs201372601
GWAS Ctlgrs201372601
Max Magnitude0
ClinVar
Risk rs201372601(T;T)
Alt rs201372601(T;T)
Reference Rs201372601(G;G)
Significance Pathogenic
Disease Mitochondrial complex II deficiency not specified Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1 Pheochromocytoma
Variation info
Gene SDHD
CLNDBN Mitochondrial complex II deficiency not specified Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1 Pheochromocytoma
Reversed 0
HGVS NC_000011.9:g.111965693G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144172.4, RCV000454533.1, RCV000476218.1,