rs119471024

Orientation

minus

Stabilized

minus

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

Make rs119471024(G;T)

Make rs119471024(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

26472391

Gene

HPS4

is a	snp
is	mentioned by
dbSNP	rs119471024
dbSNP (classic)	rs119471024
ClinGen	rs119471024
ebi	rs119471024
HLI	rs119471024
Exac	rs119471024
Gnomad	rs119471024
Varsome	rs119471024
LitVar	rs119471024
Map	rs119471024
PheGenI	rs119471024
Biobank	rs119471024
1000 genomes	rs119471024
hgdp	rs119471024
ensembl	rs119471024
geneview	rs119471024
scholar	rs119471024
google	rs119471024
pharmgkb	rs119471024
gwascentral	rs119471024
openSNP	rs119471024
23andMe	rs119471024
SNPshot	rs119471024
SNPdbe	rs119471024
MSV3d	rs119471024
GWAS Ctlg	rs119471024

Max Magnitude

0

OMIM	606682
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119471024(T;T)
Alt	rs119471024(T;T)
Reference	Rs119471024(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.26868357C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004347.4,