rs121912621

Orientation

minus

Stabilized

minus

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

Make rs121912621(A;A)

Make rs121912621(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

33982329

Gene

SLC45A2

is a	snp
is	mentioned by
dbSNP	rs121912621
dbSNP (classic)	rs121912621
ClinGen	rs121912621
ebi	rs121912621
HLI	rs121912621
Exac	rs121912621
Gnomad	rs121912621
Varsome	rs121912621
LitVar	rs121912621
Map	rs121912621
PheGenI	rs121912621
Biobank	rs121912621
1000 genomes	rs121912621
hgdp	rs121912621
ensembl	rs121912621
geneview	rs121912621
scholar	rs121912621
google	rs121912621
pharmgkb	rs121912621
gwascentral	rs121912621
openSNP	rs121912621
23andMe	rs121912621
SNPshot	rs121912621
SNPdbe	rs121912621
MSV3d	rs121912621
GWAS Ctlg	rs121912621

Max Magnitude

0

OMIM	606202
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912621(A;A)
Alt	rs121912621(A;A)
Reference	Rs121912621(G;G)
Significance	Pathogenic
Disease	Oculocutaneous albinism type 4
Variation	info
Gene	SLC45A2
CLNDBN	Oculocutaneous albinism type 4
Reversed	1
HGVS	NC_000005.9:g.33982434C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004761.3,