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rs104894044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894044(C;T)
Make rs104894044(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position155811825
GeneSHH
is asnp
is mentioned by
dbSNPrs104894044
ebirs104894044
HLIrs104894044
Exacrs104894044
Varsomers104894044
Maprs104894044
PheGenIrs104894044
hapmaprs104894044
1000 genomesrs104894044
hgdprs104894044
ensemblrs104894044
gopubmedrs104894044
geneviewrs104894044
scholarrs104894044
googlers104894044
pharmgkbrs104894044
gwascentralrs104894044
openSNPrs104894044
23andMers104894044
23andMe allrs104894044
SNP Nexus

SNPshotrs104894044
SNPdbers104894044
MSV3drs104894044
GWAS Ctlgrs104894044
Max Magnitude0
OMIM600725
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894044(T;T)
Alt rs104894044(T;T)
Reference rs104894044(C;C)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155604519G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009428.2,