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rs199476091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476091(A;A)
Make rs199476091(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position95479038
GenePTCH1
is asnp
is mentioned by
dbSNPrs199476091
ebirs199476091
HLIrs199476091
Exacrs199476091
Varsomers199476091
Maprs199476091
PheGenIrs199476091
hapmaprs199476091
1000 genomesrs199476091
hgdprs199476091
ensemblrs199476091
gopubmedrs199476091
geneviewrs199476091
scholarrs199476091
googlers199476091
pharmgkbrs199476091
gwascentralrs199476091
openSNPrs199476091
23andMers199476091
23andMe allrs199476091
SNP Nexus

SNPshotrs199476091
SNPdbers199476091
MSV3drs199476091
GWAS Ctlgrs199476091
Max Magnitude0
ClinVar
Risk rs199476091(A;A)
Alt rs199476091(A;A)
Reference rs199476091(G;G)
Significance Pathogenic
Disease Holoprosencephaly 7
Variation info
Gene PTCH1
CLNDBN Holoprosencephaly 7
Reversed 1
HGVS NC_000009.11:g.98241320C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008704.2,