rs267606866

Orientation

minus

Stabilized

minus

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

Make rs267606866(C;T)

Make rs267606866(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98482733

Gene

HPSE2

is a	snp
is	mentioned by
dbSNP	rs267606866
dbSNP (classic)	rs267606866
ClinGen	rs267606866
ebi	rs267606866
HLI	rs267606866
Exac	rs267606866
Gnomad	rs267606866
Varsome	rs267606866
LitVar	rs267606866
Map	rs267606866
PheGenI	rs267606866
Biobank	rs267606866
1000 genomes	rs267606866
hgdp	rs267606866
ensembl	rs267606866
geneview	rs267606866
scholar	rs267606866
google	rs267606866
pharmgkb	rs267606866
gwascentral	rs267606866
openSNP	rs267606866
23andMe	rs267606866
SNPshot	rs267606866
SNPdbe	rs267606866
MSV3d	rs267606866
GWAS Ctlg	rs267606866

Max Magnitude

0

ClinVar
Risk	rs267606866(T;T)
Alt	rs267606866(T;T)
Reference	Rs267606866(C;C)
Significance	Pathogenic
Disease	Ochoa syndrome
Variation	info
Gene	HPSE2
CLNDBN	Ochoa syndrome
Reversed	1
HGVS	NC_000010.10:g.100242490G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000103.5,