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rs199476093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476093(G;G)
Make rs199476093(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position95459764
GenePTCH1
is asnp
is mentioned by
dbSNPrs199476093
ebirs199476093
HLIrs199476093
Exacrs199476093
Varsomers199476093
Maprs199476093
PheGenIrs199476093
hapmaprs199476093
1000 genomesrs199476093
hgdprs199476093
ensemblrs199476093
gopubmedrs199476093
geneviewrs199476093
scholarrs199476093
googlers199476093
pharmgkbrs199476093
gwascentralrs199476093
openSNPrs199476093
23andMers199476093
23andMe allrs199476093
SNP Nexus

SNPshotrs199476093
SNPdbers199476093
MSV3drs199476093
GWAS Ctlgrs199476093
Max Magnitude0
ClinVar
Risk rs199476093(G;G)
Alt rs199476093(G;G)
Reference rs199476093(T;T)
Significance Pathogenic
Disease Holoprosencephaly 7
Variation info
Gene PTCH1
CLNDBN Holoprosencephaly 7
Reversed 1
HGVS NC_000009.11:g.98222046A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008708.4,