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rs104894053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894053(A;A)
Make rs104894053(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position155806475
GeneSHH
is asnp
is mentioned by
dbSNPrs104894053
ebirs104894053
HLIrs104894053
Exacrs104894053
Varsomers104894053
Maprs104894053
PheGenIrs104894053
hapmaprs104894053
1000 genomesrs104894053
hgdprs104894053
ensemblrs104894053
gopubmedrs104894053
geneviewrs104894053
scholarrs104894053
googlers104894053
pharmgkbrs104894053
gwascentralrs104894053
openSNPrs104894053
23andMers104894053
23andMe allrs104894053
SNP Nexus

SNPshotrs104894053
SNPdbers104894053
MSV3drs104894053
GWAS Ctlgrs104894053
Max Magnitude0
OMIM600725
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104894053(A;A)
Alt rs104894053(A;A)
Reference rs104894053(G;G)
Significance Pathogenic
Disease Holoprosencephaly 3 Single upper central incisor
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3 Single upper central incisor
Reversed 1
HGVS NC_000007.13:g.155599169C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009445.2, RCV000009446.2,