rs121908904

Orientation

minus

Stabilized

minus

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

Make rs121908904(G;G)

Make rs121908904(G;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

78129219

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs121908904
dbSNP (classic)	rs121908904
ClinGen	rs121908904
ebi	rs121908904
HLI	rs121908904
Exac	rs121908904
Gnomad	rs121908904
Varsome	rs121908904
LitVar	rs121908904
Map	rs121908904
PheGenI	rs121908904
Biobank	rs121908904
1000 genomes	rs121908904
hgdp	rs121908904
ensembl	rs121908904
geneview	rs121908904
scholar	rs121908904
google	rs121908904
pharmgkb	rs121908904
gwascentral	rs121908904
openSNP	rs121908904
23andMe	rs121908904
SNPshot	rs121908904
SNPdbe	rs121908904
MSV3d	rs121908904
GWAS Ctlg	rs121908904

Max Magnitude

0

OMIM	603401
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908904(G;G)
Alt	rs121908904(G;G)
Reference	Rs121908904(T;T)
Significance	Pathogenic
Disease	Hermansky Pudlak syndrome 2
Variation	info
Gene	AP3B1
CLNDBN	Hermansky Pudlak syndrome 2
Reversed	1
HGVS	NC_000005.9:g.77425043A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006744.3,