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rs1057518664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518664(-;-)
Make rs1057518664(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95508248
GenePTCH1
is asnp
is mentioned by
dbSNPrs1057518664
dbSNP (old)rs1057518664
ClinGenrs1057518664
ebirs1057518664
HLIrs1057518664
Exacrs1057518664
Gnomadrs1057518664
Varsomers1057518664
LitVarrs1057518664
Maprs1057518664
PheGenIrs1057518664
Biobankrs1057518664
1000 genomesrs1057518664
hgdprs1057518664
ensemblrs1057518664
gopubmedrs1057518664
geneviewrs1057518664
scholarrs1057518664
googlers1057518664
pharmgkbrs1057518664
gwascentralrs1057518664
openSNPrs1057518664
23andMers1057518664
23andMe allrs1057518664
SNPshotrs1057518664
SNPdbers1057518664
MSV3drs1057518664
GWAS Ctlgrs1057518664
Max Magnitude0
ClinVar
Risk rs1057518664(-;-)
Alt rs1057518664(-;-)
Reference Rs1057518664(G;G)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98270530delC
CLNSRC
CLNACC RCV000414789.1,