rs281865089

Orientation

plus

Stabilized

plus

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

Make rs281865089(C;T)

Make rs281865089(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98420153

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs281865089
dbSNP (classic)	rs281865089
ClinGen	rs281865089
ebi	rs281865089
HLI	rs281865089
Exac	rs281865089
Gnomad	rs281865089
Varsome	rs281865089
LitVar	rs281865089
Map	rs281865089
PheGenI	rs281865089
Biobank	rs281865089
1000 genomes	rs281865089
hgdp	rs281865089
ensembl	rs281865089
geneview	rs281865089
scholar	rs281865089
google	rs281865089
pharmgkb	rs281865089
gwascentral	rs281865089
openSNP	rs281865089
23andMe	rs281865089
SNPshot	rs281865089
SNPdbe	rs281865089
MSV3d	rs281865089
GWAS Ctlg	rs281865089

Max Magnitude

0

ClinVar
Risk	rs281865089(T;T)
Alt	rs281865089(T;T)
Reference	Rs281865089(C;C)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 1
Variation	info
Gene	HPS1
CLNDBN	Hermansky-Pudlak syndrome 1
Reversed	0
HGVS	NC_000010.10:g.100179910C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020188.1,