rs281865103

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AACT;AACT)	0	common in clinvar
(I;I)	0	common genotype
(TAAC;TAAC)	0	common in clinvar

Make rs281865103(-;-)

Make rs281865103(-;TCAA)

Make rs281865103(TCAA;TCAA)

Reference

GRCh38 38.1/141

Chromosome

11

Position

18291854

Gene

HPS5

is a	snp
is	mentioned by
dbSNP	rs281865103
dbSNP (classic)	rs281865103
ClinGen	rs281865103
ebi	rs281865103
HLI	rs281865103
Exac	rs281865103
Gnomad	rs281865103
Varsome	rs281865103
LitVar	rs281865103
Map	rs281865103
PheGenI	rs281865103
Biobank	rs281865103
1000 genomes	rs281865103
hgdp	rs281865103
ensembl	rs281865103
geneview	rs281865103
scholar	rs281865103
google	rs281865103
pharmgkb	rs281865103
gwascentral	rs281865103
openSNP	rs281865103
23andMe	rs281865103
SNPshot	rs281865103
SNPdbe	rs281865103
MSV3d	rs281865103
GWAS Ctlg	rs281865103

Max Magnitude

0

ClinVar
Risk	rs281865103(-;-)
Alt	rs281865103(-;-)
Reference	Rs281865103(TAAC;TAAC)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 5
Variation	info
Gene	HPS5
CLNDBN	Hermansky-Pudlak syndrome 5
Reversed	0
HGVS	NC_000011.9:g.18313401_18313404delAACT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003302.1,