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rs759411189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs759411189(-;-)
Make rs759411189(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position33947258
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs759411189
dbSNP (classic)rs759411189
ClinGenrs759411189
ebirs759411189
HLIrs759411189
Exacrs759411189
Gnomadrs759411189
Varsomers759411189
LitVarrs759411189
Maprs759411189
PheGenIrs759411189
Biobankrs759411189
1000 genomesrs759411189
hgdprs759411189
ensemblrs759411189
geneviewrs759411189
scholarrs759411189
googlers759411189
pharmgkbrs759411189
gwascentralrs759411189
openSNPrs759411189
23andMers759411189
SNPshotrs759411189
SNPdbers759411189
MSV3drs759411189
GWAS Ctlgrs759411189
Max Magnitude0
ClinVar
Risk rs759411189(-;-)
Alt rs759411189(-;-)
Reference Rs759411189(G;G)
Significance Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 0
HGVS NC_000005.9:g.33947363delG
CLNSRC
CLNACC RCV000234810.1,