rs121908386

Orientation

minus

Stabilized

minus

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

Make rs121908386(G;T)

Make rs121908386(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98435273

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs121908386
dbSNP (classic)	rs121908386
ClinGen	rs121908386
ebi	rs121908386
HLI	rs121908386
Exac	rs121908386
Gnomad	rs121908386
Varsome	rs121908386
LitVar	rs121908386
Map	rs121908386
PheGenI	rs121908386
Biobank	rs121908386
1000 genomes	rs121908386
hgdp	rs121908386
ensembl	rs121908386
geneview	rs121908386
scholar	rs121908386
google	rs121908386
pharmgkb	rs121908386
gwascentral	rs121908386
openSNP	rs121908386
23andMe	rs121908386
SNPshot	rs121908386
SNPdbe	rs121908386
MSV3d	rs121908386
GWAS Ctlg	rs121908386

Max Magnitude

0

OMIM	604982
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908386(A;A) rs121908386(T;T)
Alt	rs121908386(A;A) rs121908386(T;T)
Reference	Rs121908386(G;G)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 1
Variation	info
Gene	HPS1
CLNDBN	Hermansky-Pudlak syndrome 1
Reversed	1
HGVS	NC_000010.10:g.100195030C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005599.4,