rs281865077

Orientation

plus

Stabilized

plus

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

Make rs281865077(C;T)

Make rs281865077(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98435267

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs281865077
dbSNP (classic)	rs281865077
ClinGen	rs281865077
ebi	rs281865077
HLI	rs281865077
Exac	rs281865077
Gnomad	rs281865077
Varsome	rs281865077
LitVar	rs281865077
Map	rs281865077
PheGenI	rs281865077
Biobank	rs281865077
1000 genomes	rs281865077
hgdp	rs281865077
ensembl	rs281865077
geneview	rs281865077
scholar	rs281865077
google	rs281865077
pharmgkb	rs281865077
gwascentral	rs281865077
openSNP	rs281865077
23andMe	rs281865077
SNPshot	rs281865077
SNPdbe	rs281865077
MSV3d	rs281865077
GWAS Ctlg	rs281865077

Max Magnitude

0

ClinVar
Risk	rs281865077(T;T)
Alt	rs281865077(T;T)
Reference	Rs281865077(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.100195024C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005601.4,