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rs357565

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs357565(A;A)
Make rs357565(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position95443161
GenePTCH1
is asnp
is mentioned by
dbSNPrs357565
dbSNP (old)rs357565
ClinGenrs357565
ebirs357565
HLIrs357565
Exacrs357565
Gnomadrs357565
Varsomers357565
Maprs357565
PheGenIrs357565
Biobankrs357565
1000 genomesrs357565
hgdprs357565
ensemblrs357565
gopubmedrs357565
geneviewrs357565
scholarrs357565
googlers357565
pharmgkbrs357565
gwascentralrs357565
openSNPrs357565
23andMers357565
23andMe allrs357565
SNP Nexus

SNPshotrs357565
SNPdbers357565
MSV3drs357565
GWAS Ctlgrs357565
GMAF0.2273
Max Magnitude0

[PMID 24073265OA-icon.png] Common Genetic Variations in Patched1 (PTCH1) Gene and Risk of Hirschsprung Disease in the Han Chinese Population

ClinVar
Risk rs357565(A;A)
Alt rs357565(A;A)
Reference Rs357565(C;C)
Significance Probable-non-pathogenic
Disease Gorlin syndrome Holoprosencephaly
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome Holoprosencephaly
Reversed 0
HGVS NC_000009.11:g.98205443C>A
CLNSRC
CLNACC RCV000293422.1, RCV000385398.1,