rs1060502281

Orientation

minus

Stabilized

minus

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

Make rs1060502281(A;A)

Make rs1060502281(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

95481954

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs1060502281
dbSNP (classic)	rs1060502281
ClinGen	rs1060502281
ebi	rs1060502281
HLI	rs1060502281
Exac	rs1060502281
Gnomad	rs1060502281
Varsome	rs1060502281
LitVar	rs1060502281
Map	rs1060502281
PheGenI	rs1060502281
Biobank	rs1060502281
1000 genomes	rs1060502281
hgdp	rs1060502281
ensembl	rs1060502281
geneview	rs1060502281
scholar	rs1060502281
google	rs1060502281
pharmgkb	rs1060502281
gwascentral	rs1060502281
openSNP	rs1060502281
23andMe	rs1060502281
SNPshot	rs1060502281
SNPdbe	rs1060502281
MSV3d	rs1060502281
GWAS Ctlg	rs1060502281

Max Magnitude

0

ClinVar
Risk	rs1060502281(A;A)
Alt	rs1060502281(A;A)
Reference	Rs1060502281(C;C)
Significance	Pathogenic
Disease	Gorlin syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	PTCH1
CLNDBN	Gorlin syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000009.11:g.98244236G>T
CLNSRC
CLNACC	RCV000471602.1, RCV000492338.1,