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rs357564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs357564(A;A)
Make rs357564(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position95447312
GenePTCH1
is asnp
is mentioned by
dbSNPrs357564
ebirs357564
HLIrs357564
Exacrs357564
Varsomers357564
Maprs357564
PheGenIrs357564
hapmaprs357564
1000 genomesrs357564
hgdprs357564
ensemblrs357564
gopubmedrs357564
geneviewrs357564
scholarrs357564
googlers357564
pharmgkbrs357564
gwascentralrs357564
openSNPrs357564
23andMers357564
23andMe allrs357564
SNP Nexus

SNPshotrs357564
SNPdbers357564
MSV3drs357564
GWAS Ctlgrs357564
GMAF0.382
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 19937600OA-icon.png] Testing reported associations of genetic risk factors for oral clefts in a large Irish study population

[PMID 20346027] PTCH1 gene haplotype association with basal cell carcinoma after transplantation.

[PMID 20583170OA-icon.png] Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.


GET Evidence
PTCH1-P1315L
aa_change Pro1315Leu
aa_change_short P1315L
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.29631
summary Common polymorphism, presumed benign.



[PMID 22221699] Loss of heterozygosity of the PTCH gene in ameloblastoma.


ClinVar
Risk rs357564(A;A)
Alt rs357564(A;A)
Reference rs357564(G;G)
Significance Non-pathogenic
Disease not provided not specified
Variation info
Gene PTCH1
CLNDBN not provided not specified
Reversed 0
HGVS NC_000009.11:g.98209594G>A
CLNSRC ClinVar Emory University
CLNACC RCV000034575.1, RCV000078463.5,