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rs104894050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894050(A;T)
Make rs104894050(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position155811860
GeneSHH
is asnp
is mentioned by
dbSNPrs104894050
ebirs104894050
HLIrs104894050
Exacrs104894050
Varsomers104894050
Maprs104894050
PheGenIrs104894050
hapmaprs104894050
1000 genomesrs104894050
hgdprs104894050
ensemblrs104894050
gopubmedrs104894050
geneviewrs104894050
scholarrs104894050
googlers104894050
pharmgkbrs104894050
gwascentralrs104894050
openSNPrs104894050
23andMers104894050
23andMe allrs104894050
SNP Nexus

SNPshotrs104894050
SNPdbers104894050
MSV3drs104894050
GWAS Ctlgrs104894050
Max Magnitude0
OMIM600725
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104894050(T;T)
Alt rs104894050(T;T)
Reference rs104894050(A;A)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155604554T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009441.2,