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rs863225055

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATCCCTTTTGA;ATCCCTTTTGA) 0 common in clinvar
Make rs863225055(-;-)
Make rs863225055(-;ATCCCTTTTGA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95476760
GenePTCH1
is asnp
is mentioned by
dbSNPrs863225055
ClinGenrs863225055
ebirs863225055
HLIrs863225055
Exacrs863225055
Varsomers863225055
Maprs863225055
PheGenIrs863225055
hapmaprs863225055
1000 genomesrs863225055
hgdprs863225055
ensemblrs863225055
gopubmedrs863225055
geneviewrs863225055
scholarrs863225055
googlers863225055
pharmgkbrs863225055
gwascentralrs863225055
openSNPrs863225055
23andMers863225055
23andMe allrs863225055
SNP Nexus

SNPshotrs863225055
SNPdbers863225055
MSV3drs863225055
GWAS Ctlgrs863225055
Max Magnitude0
ClinVar
Risk rs863225055(-;-)
Alt rs863225055(-;-)
Reference Rs863225055(ATCCCTTTTGA;ATCCCTTTTGA)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98239042_98239052delTCAAAAGGGAT
CLNSRC
CLNACC RCV000201254.1,