rs357564

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs357564(A;A)

Make rs357564(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

95447312

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs357564
dbSNP (classic)	rs357564
ClinGen	rs357564
ebi	rs357564
HLI	rs357564
Exac	rs357564
Gnomad	rs357564
Varsome	rs357564
LitVar	rs357564
Map	rs357564
PheGenI	rs357564
Biobank	rs357564
1000 genomes	rs357564
hgdp	rs357564
ensembl	rs357564
geneview	rs357564
scholar	rs357564
google	rs357564
pharmgkb	rs357564
gwascentral	rs357564
openSNP	rs357564
23andMe	rs357564
SNPshot	rs357564
SNPdbe	rs357564
MSV3d	rs357564
GWAS Ctlg	rs357564

GMAF

0.382

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 19937600] 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 20583170] Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.

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

ClinVar
Risk	rs357564(A;A) rs357564(T;T)
Alt	rs357564(A;A) rs357564(T;T)
Reference	Rs357564(G;G)
Significance	Non-pathogenic
Disease	not provided not specified Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome
Variation	info
Gene	PTCH1
CLNDBN	not provided not specified Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000009.11:g.98209594G>A; NC_000009.11:g.98209594G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034575.1, RCV000078463.7, RCV000285014.1, RCV000378947.1, RCV000492103.1, RCV000466958.1,

[PMID 30334169] Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions.