rs869312838

Orientation

minus

Stabilized

minus

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

Make rs869312838(-;-)

Make rs869312838(-;A)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

78267547

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs869312838
dbSNP (classic)	rs869312838
ClinGen	rs869312838
ebi	rs869312838
HLI	rs869312838
Exac	rs869312838
Gnomad	rs869312838
Varsome	rs869312838
LitVar	rs869312838
Map	rs869312838
PheGenI	rs869312838
Biobank	rs869312838
1000 genomes	rs869312838
hgdp	rs869312838
ensembl	rs869312838
geneview	rs869312838
scholar	rs869312838
google	rs869312838
pharmgkb	rs869312838
gwascentral	rs869312838
openSNP	rs869312838
23andMe	rs869312838
SNPshot	rs869312838
SNPdbe	rs869312838
MSV3d	rs869312838
GWAS Ctlg	rs869312838

Max Magnitude

0

ClinVar
Risk	rs869312838(-;-)
Alt	rs869312838(-;-)
Reference	Rs869312838(A;A)
Significance	Pathogenic
Disease	Hermansky Pudlak syndrome 2
Variation	info
Gene	AP3B1
CLNDBN	Hermansky Pudlak syndrome 2
Reversed	1
HGVS	NC_000005.9:g.77563371delT
CLNSRC
CLNACC	RCV000210288.1,