rs281865083

Orientation

plus

Stabilized

plus

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

Make rs281865083(-;G)

Make rs281865083(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98427229

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs281865083
dbSNP (classic)	rs281865083
ClinGen	rs281865083
ebi	rs281865083
HLI	rs281865083
Exac	rs281865083
Gnomad	rs281865083
Varsome	rs281865083
LitVar	rs281865083
Map	rs281865083
PheGenI	rs281865083
Biobank	rs281865083
1000 genomes	rs281865083
hgdp	rs281865083
ensembl	rs281865083
geneview	rs281865083
scholar	rs281865083
google	rs281865083
pharmgkb	rs281865083
gwascentral	rs281865083
openSNP	rs281865083
23andMe	rs281865083
SNPshot	rs281865083
SNPdbe	rs281865083
MSV3d	rs281865083
GWAS Ctlg	rs281865083

Max Magnitude

0

ClinVar
Risk	rs281865083(G;G)
Alt	rs281865083(G;G)
Reference	Rs281865083(-;-)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 1
Variation	info
Gene	HPS1
CLNDBN	Hermansky-Pudlak syndrome 1
Reversed	0
HGVS	NC_000010.10:g.100186987dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005596.4,