rs267606864

Orientation

minus

Stabilized

minus

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

Make rs267606864(C;T)

Make rs267606864(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98490103

Gene

HPSE2

is a	snp
is	mentioned by
dbSNP	rs267606864
dbSNP (classic)	rs267606864
ClinGen	rs267606864
ebi	rs267606864
HLI	rs267606864
Exac	rs267606864
Gnomad	rs267606864
Varsome	rs267606864
LitVar	rs267606864
Map	rs267606864
PheGenI	rs267606864
Biobank	rs267606864
1000 genomes	rs267606864
hgdp	rs267606864
ensembl	rs267606864
geneview	rs267606864
scholar	rs267606864
google	rs267606864
pharmgkb	rs267606864
gwascentral	rs267606864
openSNP	rs267606864
23andMe	rs267606864
SNPshot	rs267606864
SNPdbe	rs267606864
MSV3d	rs267606864
GWAS Ctlg	rs267606864

Max Magnitude

0

ClinVar
Risk	rs267606864(G;G) rs267606864(T;T)
Alt	rs267606864(G;G) rs267606864(T;T)
Reference	Rs267606864(C;C)
Significance	Pathogenic
Disease	Ochoa syndrome
Variation	info
Gene	HPSE2
CLNDBN	Ochoa syndrome
Reversed	1
HGVS	NC_000010.10:g.100249860G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000108.5,