rs281865078

Orientation

plus

Stabilized

plus

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

Make rs281865078(-;-)

Make rs281865078(-;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98434072

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs281865078
dbSNP (classic)	rs281865078
ClinGen	rs281865078
ebi	rs281865078
HLI	rs281865078
Exac	rs281865078
Gnomad	rs281865078
Varsome	rs281865078
LitVar	rs281865078
Map	rs281865078
PheGenI	rs281865078
Biobank	rs281865078
1000 genomes	rs281865078
hgdp	rs281865078
ensembl	rs281865078
geneview	rs281865078
scholar	rs281865078
google	rs281865078
pharmgkb	rs281865078
gwascentral	rs281865078
openSNP	rs281865078
23andMe	rs281865078
SNPshot	rs281865078
SNPdbe	rs281865078
MSV3d	rs281865078
GWAS Ctlg	rs281865078

Max Magnitude

0

ClinVar
Risk	rs281865078(-;-)
Alt	rs281865078(-;-)
Reference	Rs281865078(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.100193829delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020195.1,