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rs104894042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894042(A;A)
Make rs104894042(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position155803618
GeneSHH
is asnp
is mentioned by
dbSNPrs104894042
ebirs104894042
HLIrs104894042
Exacrs104894042
Varsomers104894042
Maprs104894042
PheGenIrs104894042
hapmaprs104894042
1000 genomesrs104894042
hgdprs104894042
ensemblrs104894042
gopubmedrs104894042
geneviewrs104894042
scholarrs104894042
googlers104894042
pharmgkbrs104894042
gwascentralrs104894042
openSNPrs104894042
23andMers104894042
23andMe allrs104894042
SNP Nexus

SNPshotrs104894042
SNPdbers104894042
MSV3drs104894042
GWAS Ctlgrs104894042
Max Magnitude0
OMIM600725
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894042(A;A)
Alt rs104894042(A;A)
Reference rs104894042(T;T)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155596312A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009432.2,