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rs587778629

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778629(A;A)
Make rs587778629(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95456341
GenePTCH1
is asnp
is mentioned by
dbSNPrs587778629
ebirs587778629
HLIrs587778629
Exacrs587778629
Varsomers587778629
Maprs587778629
PheGenIrs587778629
hapmaprs587778629
1000 genomesrs587778629
hgdprs587778629
ensemblrs587778629
gopubmedrs587778629
geneviewrs587778629
scholarrs587778629
googlers587778629
pharmgkbrs587778629
gwascentralrs587778629
openSNPrs587778629
23andMers587778629
23andMe allrs587778629
SNP Nexus

SNPshotrs587778629
SNPdbers587778629
MSV3drs587778629
GWAS Ctlgrs587778629
Max Magnitude0
ClinVar
Risk rs587778629(A;A)
Alt rs587778629(A;A)
Reference rs587778629(G;G)
Significance Probable-Pathogenic
Disease not specified Gorlin syndrome Anophthalmia - microphthalmia
Variation info
Gene PTCH1
CLNDBN not specified Gorlin syndrome Anophthalmia - microphthalmia
Reversed 1
HGVS NC_000009.11:g.98218623C>T
CLNSRC
CLNACC RCV000121889.1, RCV000123021.5, RCV000207354.1,