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rs104894045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894045(A;T)
Make rs104894045(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position155806545
GeneSHH
is asnp
is mentioned by
dbSNPrs104894045
ebirs104894045
HLIrs104894045
Exacrs104894045
Varsomers104894045
Maprs104894045
PheGenIrs104894045
hapmaprs104894045
1000 genomesrs104894045
hgdprs104894045
ensemblrs104894045
gopubmedrs104894045
geneviewrs104894045
scholarrs104894045
googlers104894045
pharmgkbrs104894045
gwascentralrs104894045
openSNPrs104894045
23andMers104894045
23andMe allrs104894045
SNP Nexus

SNPshotrs104894045
SNPdbers104894045
MSV3drs104894045
GWAS Ctlgrs104894045
Max Magnitude0
OMIM600725
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894045(T;T)
Alt rs104894045(T;T)
Reference rs104894045(A;A)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155599239T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009429.3,