rs121908905

Orientation

minus

Stabilized

minus

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

Make rs121908905(A;T)

Make rs121908905(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

78181545

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs121908905
dbSNP (classic)	rs121908905
ClinGen	rs121908905
ebi	rs121908905
HLI	rs121908905
Exac	rs121908905
Gnomad	rs121908905
Varsome	rs121908905
LitVar	rs121908905
Map	rs121908905
PheGenI	rs121908905
Biobank	rs121908905
1000 genomes	rs121908905
hgdp	rs121908905
ensembl	rs121908905
geneview	rs121908905
scholar	rs121908905
google	rs121908905
pharmgkb	rs121908905
gwascentral	rs121908905
openSNP	rs121908905
23andMe	rs121908905
SNPshot	rs121908905
SNPdbe	rs121908905
MSV3d	rs121908905
GWAS Ctlg	rs121908905

Max Magnitude

0

OMIM	603401
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908905(G;G) rs121908905(T;T)
Alt	rs121908905(G;G) rs121908905(T;T)
Reference	Rs121908905(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.77477369T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006748.3,