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rs1057518722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518722(-;T)
Make rs1057518722(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position33984420
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs1057518722
dbSNP (classic)rs1057518722
ClinGenrs1057518722
ebirs1057518722
HLIrs1057518722
Exacrs1057518722
Gnomadrs1057518722
Varsomers1057518722
LitVarrs1057518722
Maprs1057518722
PheGenIrs1057518722
Biobankrs1057518722
1000 genomesrs1057518722
hgdprs1057518722
ensemblrs1057518722
geneviewrs1057518722
scholarrs1057518722
googlers1057518722
pharmgkbrs1057518722
gwascentralrs1057518722
openSNPrs1057518722
23andMers1057518722
23andMe allrs1057518722
SNPshotrs1057518722
SNPdbers1057518722
MSV3drs1057518722
GWAS Ctlgrs1057518722
Max Magnitude0
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,