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rs104894046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894046(G;T)
Make rs104894046(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position155803439
GeneSHH
is asnp
is mentioned by
dbSNPrs104894046
ebirs104894046
HLIrs104894046
Exacrs104894046
Varsomers104894046
Maprs104894046
PheGenIrs104894046
hapmaprs104894046
1000 genomesrs104894046
hgdprs104894046
ensemblrs104894046
gopubmedrs104894046
geneviewrs104894046
scholarrs104894046
googlers104894046
pharmgkbrs104894046
gwascentralrs104894046
openSNPrs104894046
23andMers104894046
23andMe allrs104894046
SNP Nexus

SNPshotrs104894046
SNPdbers104894046
MSV3drs104894046
GWAS Ctlgrs104894046
Max Magnitude0
OMIM600725
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894046(A,T;A,T)
Alt rs104894046(A,T;A,T)
Reference rs104894046(G;G)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155596133C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009435.2,