rs121908385

Orientation

minus

Stabilized

minus

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

Make rs121908385(G;T)

Make rs121908385(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98417671

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs121908385
dbSNP (classic)	rs121908385
ClinGen	rs121908385
ebi	rs121908385
HLI	rs121908385
Exac	rs121908385
Gnomad	rs121908385
Varsome	rs121908385
LitVar	rs121908385
Map	rs121908385
PheGenI	rs121908385
Biobank	rs121908385
1000 genomes	rs121908385
hgdp	rs121908385
ensembl	rs121908385
geneview	rs121908385
scholar	rs121908385
google	rs121908385
pharmgkb	rs121908385
gwascentral	rs121908385
openSNP	rs121908385
23andMe	rs121908385
SNPshot	rs121908385
SNPdbe	rs121908385
MSV3d	rs121908385
GWAS Ctlg	rs121908385

Max Magnitude

0

OMIM	604982
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908385(A;A) rs121908385(T;T)
Alt	rs121908385(A;A) rs121908385(T;T)
Reference	Rs121908385(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.100177428C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005597.4,