rs121912619

Orientation

minus

Stabilized

minus

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

Make rs121912619(C;C)

Make rs121912619(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

33951628

Gene

SLC45A2

is a	snp
is	mentioned by
dbSNP	rs121912619
dbSNP (classic)	rs121912619
ClinGen	rs121912619
ebi	rs121912619
HLI	rs121912619
Exac	rs121912619
Gnomad	rs121912619
Varsome	rs121912619
LitVar	rs121912619
Map	rs121912619
PheGenI	rs121912619
Biobank	rs121912619
1000 genomes	rs121912619
hgdp	rs121912619
ensembl	rs121912619
geneview	rs121912619
scholar	rs121912619
google	rs121912619
pharmgkb	rs121912619
gwascentral	rs121912619
openSNP	rs121912619
23andMe	rs121912619
SNPshot	rs121912619
SNPdbe	rs121912619
MSV3d	rs121912619
GWAS Ctlg	rs121912619

Merged from

Rs28939380

Max Magnitude

0

OMIM	606202
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912619(C;C)
Alt	rs121912619(C;C)
Reference	Rs121912619(T;T)
Significance	Pathogenic
Disease	Oculocutaneous albinism type 4 not specified
Variation	info
Gene	SLC45A2
CLNDBN	Oculocutaneous albinism type 4 not specified
Reversed	1
HGVS	NC_000005.9:g.33951733A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004757.3, RCV000178964.1,