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rs104894051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894051(G;T)
Make rs104894051(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position155803523
GeneSHH
is asnp
is mentioned by
dbSNPrs104894051
ebirs104894051
HLIrs104894051
Exacrs104894051
Varsomers104894051
Maprs104894051
PheGenIrs104894051
hapmaprs104894051
1000 genomesrs104894051
hgdprs104894051
ensemblrs104894051
gopubmedrs104894051
geneviewrs104894051
scholarrs104894051
googlers104894051
pharmgkbrs104894051
gwascentralrs104894051
openSNPrs104894051
23andMers104894051
23andMe allrs104894051
SNP Nexus

SNPshotrs104894051
SNPdbers104894051
MSV3drs104894051
GWAS Ctlgrs104894051
Max Magnitude0
OMIM600725
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894051(T;T)
Alt rs104894051(T;T)
Reference rs104894051(G;G)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155596217C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009443.2,