rs281865100

Orientation

minus

Stabilized

minus

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

Make rs281865100(-;AAGCA)

Make rs281865100(AAGCA;AAGCA)

Reference

GRCh38 38.1/141

Chromosome

22

Position

26453266

Gene

HPS4

is a	snp
is	mentioned by
dbSNP	rs281865100
dbSNP (classic)	rs281865100
ClinGen	rs281865100
ebi	rs281865100
HLI	rs281865100
Exac	rs281865100
Gnomad	rs281865100
Varsome	rs281865100
LitVar	rs281865100
Map	rs281865100
PheGenI	rs281865100
Biobank	rs281865100
1000 genomes	rs281865100
hgdp	rs281865100
ensembl	rs281865100
geneview	rs281865100
scholar	rs281865100
google	rs281865100
pharmgkb	rs281865100
gwascentral	rs281865100
openSNP	rs281865100
23andMe	rs281865100
SNPshot	rs281865100
SNPdbe	rs281865100
MSV3d	rs281865100
GWAS Ctlg	rs281865100

Max Magnitude

0

ClinVar
Risk	rs281865100(AAGCA;AAGCA)
Alt	rs281865100(AAGCA;AAGCA)
Reference	Rs281865100(-;-)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 4
Variation	info
Gene	HPS4
CLNDBN	Hermansky-Pudlak syndrome 4
Reversed	1
HGVS	NC_000022.10:g.26849233_26849237dupTGCTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004342.4,