rs119471025

Orientation

minus

Stabilized

minus

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

Make rs119471025(G;T)

Make rs119471025(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

26468556

Gene

HPS4

is a	snp
is	mentioned by
dbSNP	rs119471025
dbSNP (classic)	rs119471025
ClinGen	rs119471025
ebi	rs119471025
HLI	rs119471025
Exac	rs119471025
Gnomad	rs119471025
Varsome	rs119471025
LitVar	rs119471025
Map	rs119471025
PheGenI	rs119471025
Biobank	rs119471025
1000 genomes	rs119471025
hgdp	rs119471025
ensembl	rs119471025
geneview	rs119471025
scholar	rs119471025
google	rs119471025
pharmgkb	rs119471025
gwascentral	rs119471025
openSNP	rs119471025
23andMe	rs119471025
SNPshot	rs119471025
SNPdbe	rs119471025
MSV3d	rs119471025
GWAS Ctlg	rs119471025

Max Magnitude

0

OMIM	606682
Desc
Variant	0008
Related	also

ClinVar
Risk	rs119471025(T;T)
Alt	rs119471025(T;T)
Reference	Rs119471025(G;G)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 4
Variation	info
Gene	HPS4
CLNDBN	Hermansky-Pudlak syndrome 4
Reversed	1
HGVS	NC_000022.10:g.26864522C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004348.3,