rs121908316

Orientation

plus

Stabilized

plus

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

Make rs121908316(C;T)

Make rs121908316(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

149150624

Gene

HPS3

is a	snp
is	mentioned by
dbSNP	rs121908316
dbSNP (classic)	rs121908316
ClinGen	rs121908316
ebi	rs121908316
HLI	rs121908316
Exac	rs121908316
Gnomad	rs121908316
Varsome	rs121908316
LitVar	rs121908316
Map	rs121908316
PheGenI	rs121908316
Biobank	rs121908316
1000 genomes	rs121908316
hgdp	rs121908316
ensembl	rs121908316
geneview	rs121908316
scholar	rs121908316
google	rs121908316
pharmgkb	rs121908316
gwascentral	rs121908316
openSNP	rs121908316
23andMe	rs121908316
SNPshot	rs121908316
SNPdbe	rs121908316
MSV3d	rs121908316
GWAS Ctlg	rs121908316

Max Magnitude

0

OMIM	606118
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908316(T;T)
Alt	rs121908316(T;T)
Reference	Rs121908316(C;C)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 3
Variation	info
Gene	HPS3
CLNDBN	Hermansky-Pudlak syndrome 3
Reversed	0
HGVS	NC_000003.11:g.148868411C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004876.2,