rs199476093

Orientation

minus

Stabilized

minus

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

Make rs199476093(G;G)

Make rs199476093(G;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

95459764

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs199476093
dbSNP (classic)	rs199476093
ClinGen	rs199476093
ebi	rs199476093
HLI	rs199476093
Exac	rs199476093
Gnomad	rs199476093
Varsome	rs199476093
LitVar	rs199476093
Map	rs199476093
PheGenI	rs199476093
Biobank	rs199476093
1000 genomes	rs199476093
hgdp	rs199476093
ensembl	rs199476093
geneview	rs199476093
scholar	rs199476093
google	rs199476093
pharmgkb	rs199476093
gwascentral	rs199476093
openSNP	rs199476093
23andMe	rs199476093
SNPshot	rs199476093
SNPdbe	rs199476093
MSV3d	rs199476093
GWAS Ctlg	rs199476093

Max Magnitude

0

ClinVar
Risk	rs199476093(G;G)
Alt	rs199476093(G;G)
Reference	Rs199476093(T;T)
Significance	Pathogenic
Disease	Holoprosencephaly 7
Variation	info
Gene	PTCH1
CLNDBN	Holoprosencephaly 7
Reversed	1
HGVS	NC_000009.11:g.98222046A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008708.4,