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rs121908984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908984(A;A)
Make rs121908984(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position112094923
GeneSDHD
is asnp
is mentioned by
dbSNPrs121908984
dbSNP (classic)rs121908984
ClinGenrs121908984
ebirs121908984
HLIrs121908984
Exacrs121908984
Gnomadrs121908984
Varsomers121908984
LitVarrs121908984
Maprs121908984
PheGenIrs121908984
Biobankrs121908984
1000 genomesrs121908984
hgdprs121908984
ensemblrs121908984
geneviewrs121908984
scholarrs121908984
googlers121908984
pharmgkbrs121908984
gwascentralrs121908984
openSNPrs121908984
23andMers121908984
SNPshotrs121908984
SNPdbers121908984
MSV3drs121908984
GWAS Ctlgrs121908984
Max Magnitude0
OMIM602690
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121908984(A;A)
Alt rs121908984(A;A)
Reference Rs121908984(C;C)
Significance Pathogenic
Disease Cowden syndrome 3
Variation info
Gene SDHD
CLNDBN Cowden syndrome 3
Reversed 0
HGVS NC_000011.9:g.111965647C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007327.4,