rs863224487

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	5.3	Basal cell nevus syndrome
(T;T)	0	common in clinvar

Make rs863224487(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95482029

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs863224487
dbSNP (classic)	rs863224487
ClinGen	rs863224487
ebi	rs863224487
HLI	rs863224487
Exac	rs863224487
Gnomad	rs863224487
Varsome	rs863224487
LitVar	rs863224487
Map	rs863224487
PheGenI	rs863224487
Biobank	rs863224487
1000 genomes	rs863224487
hgdp	rs863224487
ensembl	rs863224487
geneview	rs863224487
scholar	rs863224487
google	rs863224487
pharmgkb	rs863224487
gwascentral	rs863224487
openSNP	rs863224487
23andMe	rs863224487
SNPshot	rs863224487
SNPdbe	rs863224487
MSV3d	rs863224487
GWAS Ctlg	rs863224487

Max Magnitude

5.3

ClinVar
Risk	rs863224487(A;A)
Alt	rs863224487(A;A)
Reference	Rs863224487(T;T)
Significance	Pathogenic
Disease	Gorlin syndrome
Variation	info
Gene	PTCH1
CLNDBN	Gorlin syndrome
Reversed	1
HGVS	NC_000009.11:g.98244311A>T
CLNSRC
CLNACC	RCV000199837.2,