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rs863224485

From SNPedia

Orientationminus
Geno Mag Summary
(TGGGTCCA;TGGGTCCA) 0 common in clinvar
Make rs863224485(-;-)
Make rs863224485(-;TGGGTCCA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95459638
GenePTCH1
is asnp
is mentioned by
dbSNPrs863224485
ebirs863224485
HLIrs863224485
Exacrs863224485
Varsomers863224485
Maprs863224485
PheGenIrs863224485
hapmaprs863224485
1000 genomesrs863224485
hgdprs863224485
ensemblrs863224485
gopubmedrs863224485
geneviewrs863224485
scholarrs863224485
googlers863224485
pharmgkbrs863224485
gwascentralrs863224485
openSNPrs863224485
23andMers863224485
23andMe allrs863224485
SNP Nexus

SNPshotrs863224485
SNPdbers863224485
MSV3drs863224485
GWAS Ctlgrs863224485
Max Magnitude0
ClinVar
Risk rs863224485(;)
Alt rs863224485(;)
Reference rs863224485(TGGGTCCA;TGGGTCCA)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98221920_98221927delTGGACCCA
CLNSRC
CLNACC RCV000196749.1,