rs6453373

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0	common in complete genomics

Make rs6453373(A;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

78129204

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs6453373
dbSNP (classic)	rs6453373
ClinGen	rs6453373
ebi	rs6453373
HLI	rs6453373
Exac	rs6453373
Gnomad	rs6453373
Varsome	rs6453373
LitVar	rs6453373
Map	rs6453373
PheGenI	rs6453373
Biobank	rs6453373
1000 genomes	rs6453373
hgdp	rs6453373
ensembl	rs6453373
geneview	rs6453373
scholar	rs6453373
google	rs6453373
pharmgkb	rs6453373
gwascentral	rs6453373
openSNP	rs6453373
23andMe	rs6453373
SNPshot	rs6453373
SNPdbe	rs6453373
MSV3d	rs6453373
GWAS Ctlg	rs6453373

GMAF

0.1864

Max Magnitude

0

?	(A;A) (A;T) (T;T)	28

ClinVar
Risk	Rs6453373(T;T)
Alt	Rs6453373(T;T)
Reference	Rs6453373(A;A)
Significance	Non-pathogenic
Disease	not specified Hermansky-Pudlak syndrome
Variation	info
Gene	AP3B1
CLNDBN	not specified Hermansky-Pudlak syndrome
Reversed	0
HGVS	NC_000005.9:g.77425028A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000150163.2, RCV000324616.1,