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rs372027952

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372027952(A;A)
Make rs372027952(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95447367
GenePTCH1
is asnp
is mentioned by
dbSNPrs372027952
ebirs372027952
HLIrs372027952
Exacrs372027952
Varsomers372027952
Maprs372027952
PheGenIrs372027952
hapmaprs372027952
1000 genomesrs372027952
hgdprs372027952
ensemblrs372027952
gopubmedrs372027952
geneviewrs372027952
scholarrs372027952
googlers372027952
pharmgkbrs372027952
gwascentralrs372027952
openSNPrs372027952
23andMers372027952
23andMe allrs372027952
SNP Nexus

SNPshotrs372027952
SNPdbers372027952
MSV3drs372027952
GWAS Ctlgrs372027952
Max Magnitude0
ClinVar
Risk rs372027952(A;A)
Alt rs372027952(A;A)
Reference rs372027952(G;G)
Significance Probable-Pathogenic
Disease Gorlin syndrome Rieger anomaly
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome Rieger anomaly
Reversed 0
HGVS NC_000009.11:g.98209649G>A
CLNSRC
CLNACC RCV000119190.3, RCV000207358.1,