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rs200330818

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 4
(C;C) 0 common in clinvar


Make rs200330818(A;A)
ReferenceGRCh38 38.1/142
Chromosome10
Position47322871
GeneGDF2
is asnp
is mentioned by
dbSNPrs200330818
ebirs200330818
HLIrs200330818
Exacrs200330818
Varsomers200330818
Maprs200330818
PheGenIrs200330818
hapmaprs200330818
1000 genomesrs200330818
hgdprs200330818
ensemblrs200330818
gopubmedrs200330818
geneviewrs200330818
scholarrs200330818
googlers200330818
pharmgkbrs200330818
gwascentralrs200330818
openSNPrs200330818
23andMers200330818
23andMe allrs200330818
SNP Nexus

SNPshotrs200330818
SNPdbers200330818
MSV3drs200330818
GWAS Ctlgrs200330818
Max Magnitude4
ClinVar
Risk rs200330818(A,T;A,T)
Alt rs200330818(A,T;A,T)
Reference rs200330818(C;C)
Significance Pathogenic
Disease Telangiectasia
Variation info
Gene GDF2
CLNDBN Telangiectasia, hereditary hemorrhagic, type 5
Reversed 0
HGVS NC_000010.10:g.48416491C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074345.2,