rs863224444

Orientation

minus

Stabilized

minus

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

Make rs863224444(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95480389

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs863224444
dbSNP (classic)	rs863224444
ClinGen	rs863224444
ebi	rs863224444
HLI	rs863224444
Exac	rs863224444
Gnomad	rs863224444
Varsome	rs863224444
LitVar	rs863224444
Map	rs863224444
PheGenI	rs863224444
Biobank	rs863224444
1000 genomes	rs863224444
hgdp	rs863224444
ensembl	rs863224444
geneview	rs863224444
scholar	rs863224444
google	rs863224444
pharmgkb	rs863224444
gwascentral	rs863224444
openSNP	rs863224444
23andMe	rs863224444
SNPshot	rs863224444
SNPdbe	rs863224444
MSV3d	rs863224444
GWAS Ctlg	rs863224444

Max Magnitude

5.3

ClinVar
Risk	rs863224444(A;A)
Alt	rs863224444(A;A)
Reference	Rs863224444(G;G)
Significance	Pathogenic
Disease	Gorlin syndrome
Variation	info
Gene	PTCH1
CLNDBN	Gorlin syndrome
Reversed	1
HGVS	NC_000009.11:g.98242671C>T
CLNSRC
CLNACC	RCV000199083.2,