rs119471023

Orientation

minus

Stabilized

minus

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

Make rs119471023(C;T)

Make rs119471023(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

26468571

Gene

HPS4

is a	snp
is	mentioned by
dbSNP	rs119471023
dbSNP (classic)	rs119471023
ClinGen	rs119471023
ebi	rs119471023
HLI	rs119471023
Exac	rs119471023
Gnomad	rs119471023
Varsome	rs119471023
LitVar	rs119471023
Map	rs119471023
PheGenI	rs119471023
Biobank	rs119471023
1000 genomes	rs119471023
hgdp	rs119471023
ensembl	rs119471023
geneview	rs119471023
scholar	rs119471023
google	rs119471023
pharmgkb	rs119471023
gwascentral	rs119471023
openSNP	rs119471023
23andMe	rs119471023
SNPshot	rs119471023
SNPdbe	rs119471023
MSV3d	rs119471023
GWAS Ctlg	rs119471023

Max Magnitude

0

OMIM	606682
Desc
Variant	0006
Related	also

ClinVar
Risk	rs119471023(T;T)
Alt	rs119471023(T;T)
Reference	Rs119471023(C;C)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 4
Variation	info
Gene	HPS4
CLNDBN	Hermansky-Pudlak syndrome 4
Reversed	1
HGVS	NC_000022.10:g.26864537G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004346.3,