rs199476092

Orientation

minus

Stabilized

minus

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

Make rs199476092(A;G)

Make rs199476092(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

95467197

Gene	LOC100507346, PTCH1

is a	snp
is	mentioned by
dbSNP	rs199476092
dbSNP (classic)	rs199476092
ClinGen	rs199476092
ebi	rs199476092
HLI	rs199476092
Exac	rs199476092
Gnomad	rs199476092
Varsome	rs199476092
LitVar	rs199476092
Map	rs199476092
PheGenI	rs199476092
Biobank	rs199476092
1000 genomes	rs199476092
hgdp	rs199476092
ensembl	rs199476092
geneview	rs199476092
scholar	rs199476092
google	rs199476092
pharmgkb	rs199476092
gwascentral	rs199476092
openSNP	rs199476092
23andMe	rs199476092
SNPshot	rs199476092
SNPdbe	rs199476092
MSV3d	rs199476092
GWAS Ctlg	rs199476092

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs199476092(G;G)
Alt	rs199476092(G;G)
Reference	Rs199476092(A;A)
Significance	Pathogenic
Disease	Holoprosencephaly 7 not provided not specified Gorlin syndrome
Variation	info
Gene	LOC100507346 PTCH1
CLNDBN	Holoprosencephaly 7 not provided not specified Gorlin syndrome
Reversed	1
HGVS	NC_000009.11:g.98229479T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008706.3, RCV000034565.1, RCV000121886.1, RCV000123010.5,