rs397515338

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AA;AA)	0	common in clinvar
(I;I)	0	common genotype

Make rs397515338(-;-)

Make rs397515338(-;AA)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98490051

Gene

HPSE2

is a	snp
is	mentioned by
dbSNP	rs397515338
dbSNP (classic)	rs397515338
ClinGen	rs397515338
ebi	rs397515338
HLI	rs397515338
Exac	rs397515338
Gnomad	rs397515338
Varsome	rs397515338
LitVar	rs397515338
Map	rs397515338
PheGenI	rs397515338
Biobank	rs397515338
1000 genomes	rs397515338
hgdp	rs397515338
ensembl	rs397515338
geneview	rs397515338
scholar	rs397515338
google	rs397515338
pharmgkb	rs397515338
gwascentral	rs397515338
openSNP	rs397515338
23andMe	rs397515338
SNPshot	rs397515338
SNPdbe	rs397515338
MSV3d	rs397515338
GWAS Ctlg	rs397515338

Max Magnitude

0

ClinVar
Risk	rs397515338(-;-)
Alt	rs397515338(-;-)
Reference	Rs397515338(AA;AA)
Significance	Pathogenic
Disease	Ochoa syndrome
Variation	info
Gene	HPSE2
CLNDBN	Ochoa syndrome
Reversed	1
HGVS	NC_000010.10:g.100249808_100249809delTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000104.5,