rs863224484

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;G)	5.3	Possible miscall in 23andMe and Ancestry data; otherwise, Basal cell nevus syndrome
(G;G)	0	common in clinvar

Make rs863224484(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

95459688

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs863224484
dbSNP (classic)	rs863224484
ClinGen	rs863224484
ebi	rs863224484
HLI	rs863224484
Exac	rs863224484
Gnomad	rs863224484
Varsome	rs863224484
LitVar	rs863224484
Map	rs863224484
PheGenI	rs863224484
Biobank	rs863224484
1000 genomes	rs863224484
hgdp	rs863224484
ensembl	rs863224484
geneview	rs863224484
scholar	rs863224484
google	rs863224484
pharmgkb	rs863224484
gwascentral	rs863224484
openSNP	rs863224484
23andMe	rs863224484
SNPshot	rs863224484
SNPdbe	rs863224484
MSV3d	rs863224484
GWAS Ctlg	rs863224484

Max Magnitude

5.3

aka c.2601delG (and due to alternative numbering, also c.2346delG, c.2601delG, c.2643delG, c.2796delG, and c.2799delG)

ClinVar
Risk	rs863224484(-;-)
Alt	rs863224484(-;-)
Reference	Rs863224484(G;G)
Significance	Pathogenic
Disease	Gorlin syndrome
Variation	info
Gene	PTCH1
CLNDBN	Gorlin syndrome
Reversed	1
HGVS	NC_000009.11:g.98221970delC
CLNSRC
CLNACC	RCV000199981.1,