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rs104894048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894048(C;G)
Make rs104894048(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position155803019
GeneSHH
is asnp
is mentioned by
dbSNPrs104894048
ebirs104894048
HLIrs104894048
Exacrs104894048
Varsomers104894048
Maprs104894048
PheGenIrs104894048
hapmaprs104894048
1000 genomesrs104894048
hgdprs104894048
ensemblrs104894048
gopubmedrs104894048
geneviewrs104894048
scholarrs104894048
googlers104894048
pharmgkbrs104894048
gwascentralrs104894048
openSNPrs104894048
23andMers104894048
23andMe allrs104894048
SNP Nexus

SNPshotrs104894048
SNPdbers104894048
MSV3drs104894048
GWAS Ctlgrs104894048
Max Magnitude0
OMIM600725
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894048(A,G;A,G)
Alt rs104894048(A,G;A,G)
Reference rs104894048(C;C)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155595713G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009438.2,