rs281865079

Orientation

plus

Stabilized

plus

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

Make rs281865079(-;G)

Make rs281865079(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98431266

Gene	HPS1, MIR4685

is a	snp
is	mentioned by
dbSNP	rs281865079
dbSNP (classic)	rs281865079
ClinGen	rs281865079
ebi	rs281865079
HLI	rs281865079
Exac	rs281865079
Gnomad	rs281865079
Varsome	rs281865079
LitVar	rs281865079
Map	rs281865079
PheGenI	rs281865079
Biobank	rs281865079
1000 genomes	rs281865079
hgdp	rs281865079
ensembl	rs281865079
geneview	rs281865079
scholar	rs281865079
google	rs281865079
pharmgkb	rs281865079
gwascentral	rs281865079
openSNP	rs281865079
23andMe	rs281865079
SNPshot	rs281865079
SNPdbe	rs281865079
MSV3d	rs281865079
GWAS Ctlg	rs281865079

Max Magnitude

0

ClinVar
Risk	rs281865079(G;G)
Alt	rs281865079(G;G)
Reference	Rs281865079(-;-)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 1
Variation	info
Gene	HPS1 MIR4685
CLNDBN	Hermansky-Pudlak syndrome 1
Reversed	0
HGVS	NC_000010.10:g.100191024dupG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020196.1,