rs281865082

Orientation

plus

Stabilized

plus

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

Make rs281865082(-;-)

Make rs281865082(-;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98427230

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs281865082
dbSNP (classic)	rs281865082
ClinGen	rs281865082
ebi	rs281865082
HLI	rs281865082
Exac	rs281865082
Gnomad	rs281865082
Varsome	rs281865082
LitVar	rs281865082
Map	rs281865082
PheGenI	rs281865082
Biobank	rs281865082
1000 genomes	rs281865082
hgdp	rs281865082
ensembl	rs281865082
geneview	rs281865082
scholar	rs281865082
google	rs281865082
pharmgkb	rs281865082
gwascentral	rs281865082
openSNP	rs281865082
23andMe	rs281865082
SNPshot	rs281865082
SNPdbe	rs281865082
MSV3d	rs281865082
GWAS Ctlg	rs281865082

Max Magnitude

0

ClinVar
Risk	rs281865082(-;-)
Alt	rs281865082(-;-)
Reference	Rs281865082(G;G)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 1
Variation	info
Gene	HPS1
CLNDBN	Hermansky-Pudlak syndrome 1
Reversed	0
HGVS	NC_000010.10:g.100186987delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005598.4,