rs201227603

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Hermansky-Pudlak 3 mutation

Make rs201227603(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

149145547

Gene

HPS3

is a	snp
is	mentioned by
dbSNP	rs201227603
dbSNP (classic)	rs201227603
ClinGen	rs201227603
ebi	rs201227603
HLI	rs201227603
Exac	rs201227603
Gnomad	rs201227603
Varsome	rs201227603
LitVar	rs201227603
Map	rs201227603
PheGenI	rs201227603
Biobank	rs201227603
1000 genomes	rs201227603
hgdp	rs201227603
ensembl	rs201227603
geneview	rs201227603
scholar	rs201227603
google	rs201227603
pharmgkb	rs201227603
gwascentral	rs201227603
openSNP	rs201227603
23andMe	rs201227603
SNPshot	rs201227603
SNPdbe	rs201227603
MSV3d	rs201227603
GWAS Ctlg	rs201227603

Max Magnitude

3

aka c.1163+1G>A

ClinVar
Risk	rs201227603(T;T)
Alt	rs201227603(T;T)
Reference	Rs201227603(C;C)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 3
Variation	info
Gene	HPS3
CLNDBN	Hermansky-Pudlak syndrome 3
Reversed	1
HGVS	NC_000003.11:g.148863334G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004872.5,