rs1057518722

Orientation

minus

Stabilized

minus

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

Make rs1057518722(-;T)

Make rs1057518722(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

33984420

Gene

SLC45A2

is a	snp
is	mentioned by
dbSNP	rs1057518722
dbSNP (classic)	rs1057518722
ClinGen	rs1057518722
ebi	rs1057518722
HLI	rs1057518722
Exac	rs1057518722
Gnomad	rs1057518722
Varsome	rs1057518722
LitVar	rs1057518722
Map	rs1057518722
PheGenI	rs1057518722
Biobank	rs1057518722
1000 genomes	rs1057518722
hgdp	rs1057518722
ensembl	rs1057518722
geneview	rs1057518722
scholar	rs1057518722
google	rs1057518722
pharmgkb	rs1057518722
gwascentral	rs1057518722
openSNP	rs1057518722
23andMe	rs1057518722
SNPshot	rs1057518722
SNPdbe	rs1057518722
MSV3d	rs1057518722
GWAS Ctlg	rs1057518722

Max Magnitude

0

ClinVar
Risk	rs1057518722(T;T)
Alt	rs1057518722(T;T)
Reference	Rs1057518722(-;-)
Significance	Pathogenic
Disease	Oculocutaneous albinism type 4
Variation	info
Gene	SLC45A2
CLNDBN	Oculocutaneous albinism type 4
Reversed	1
HGVS	NC_000005.9:g.33984526dupA
CLNSRC
CLNACC	RCV000415377.1,