rs119471021

Orientation

minus

Stabilized

minus

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

Make rs119471021(C;T)

Make rs119471021(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

26457923

Gene

HPS4

is a	snp
is	mentioned by
dbSNP	rs119471021
dbSNP (classic)	rs119471021
ClinGen	rs119471021
ebi	rs119471021
HLI	rs119471021
Exac	rs119471021
Gnomad	rs119471021
Varsome	rs119471021
LitVar	rs119471021
Map	rs119471021
PheGenI	rs119471021
Biobank	rs119471021
1000 genomes	rs119471021
hgdp	rs119471021
ensembl	rs119471021
geneview	rs119471021
scholar	rs119471021
google	rs119471021
pharmgkb	rs119471021
gwascentral	rs119471021
openSNP	rs119471021
23andMe	rs119471021
SNPshot	rs119471021
SNPdbe	rs119471021
MSV3d	rs119471021
GWAS Ctlg	rs119471021

Max Magnitude

0

OMIM	606682
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119471021(T;T)
Alt	rs119471021(T;T)
Reference	Rs119471021(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.26853889G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004341.1,