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rs368417828

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs368417828(A;A)
Make rs368417828(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95456391
GenePTCH1
is asnp
is mentioned by
dbSNPrs368417828
ebirs368417828
HLIrs368417828
Exacrs368417828
Varsomers368417828
Maprs368417828
PheGenIrs368417828
hapmaprs368417828
1000 genomesrs368417828
hgdprs368417828
ensemblrs368417828
gopubmedrs368417828
geneviewrs368417828
scholarrs368417828
googlers368417828
pharmgkbrs368417828
gwascentralrs368417828
openSNPrs368417828
23andMers368417828
23andMe allrs368417828
SNP Nexus

SNPshotrs368417828
SNPdbers368417828
MSV3drs368417828
GWAS Ctlgrs368417828
Max Magnitude0
ClinVar
Risk rs368417828(A;A)
Alt rs368417828(A;A)
Reference rs368417828(G;G)
Significance Probable-Pathogenic
Disease Anophthalmia - microphthalmia
Variation info
Gene PTCH1
CLNDBN Anophthalmia - microphthalmia
Reversed 0
HGVS NC_000009.11:g.98218673G>A
CLNSRC
CLNACC RCV000207365.1,