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rs886037643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886037643(A;A)
Make rs886037643(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position48136683
GeneMYEF2, SLC24A5
is asnp
is mentioned by
dbSNPrs886037643
dbSNP (classic)rs886037643
ClinGenrs886037643
ebirs886037643
HLIrs886037643
Exacrs886037643
Gnomadrs886037643
Varsomers886037643
LitVarrs886037643
Maprs886037643
PheGenIrs886037643
Biobankrs886037643
1000 genomesrs886037643
hgdprs886037643
ensemblrs886037643
geneviewrs886037643
scholarrs886037643
googlers886037643
pharmgkbrs886037643
gwascentralrs886037643
openSNPrs886037643
23andMers886037643
SNPshotrs886037643
SNPdbers886037643
MSV3drs886037643
GWAS Ctlgrs886037643
Max Magnitude0
ClinVar
Risk rs886037643(A;A)
Alt rs886037643(A;A)
Reference Rs886037643(G;G)
Significance Pathogenic
Disease Albinism
Variation info
Gene SLC24A5
CLNDBN Albinism, oculocutaneous, type VI
Reversed 0
HGVS NC_000015.9:g.48428880G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054447.4,