Rs104894855

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894855(C;T)
Make rs104894855(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position133753919
GeneGPC3
is asnp
is mentioned by
dbSNPrs104894855
Exacrs104894855
PheGenIrs104894855
nextbiors104894855
hapmaprs104894855
1000 genomesrs104894855
hgdprs104894855
ensemblrs104894855
gopubmedrs104894855
geneviewrs104894855
scholarrs104894855
googlers104894855
pharmgkbrs104894855
gwascentralrs104894855
openSNPrs104894855
23andMers104894855
23andMe allrs104894855
SNP Nexus

SNPshotrs104894855
SNPdbers104894855
MSV3drs104894855
Max Magnitude0
OMIM300037
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894855(T;T)
Alt rs104894855(T;T)
Reference rs104894855(C;C)
Significance Pathogenic
Disease Simpson-Golabi-Behmel syndrome
Variation info
Gene GPC3
CLNDBN Simpson-Golabi-Behmel syndrome
Reversed 1
HGVS NC_000023.10:g.132887946G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012455.13,