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rs104894040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894040(G;G)
Make rs104894040(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position155806509
GeneSHH
is asnp
is mentioned by
dbSNPrs104894040
ebirs104894040
HLIrs104894040
Exacrs104894040
Varsomers104894040
Maprs104894040
PheGenIrs104894040
hapmaprs104894040
1000 genomesrs104894040
hgdprs104894040
ensemblrs104894040
gopubmedrs104894040
geneviewrs104894040
scholarrs104894040
googlers104894040
pharmgkbrs104894040
gwascentralrs104894040
openSNPrs104894040
23andMers104894040
23andMe allrs104894040
SNP Nexus

SNPshotrs104894040
SNPdbers104894040
MSV3drs104894040
GWAS Ctlgrs104894040
Max Magnitude0
OMIM600725
Desc
Variant0005
Relatedalso
OMIM600725
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894040(C,G;C,G)
Alt rs104894040(C,G;C,G)
Reference rs104894040(T;T)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155599203A>C; NC_000007.13:g.155599203A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009430.2, RCV000009431.2,



[PMID 26590974] Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish population