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rs730880271

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880271(-;-)
Make rs730880271(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position33951589
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs730880271
ebirs730880271
HLIrs730880271
Exacrs730880271
Varsomers730880271
Maprs730880271
PheGenIrs730880271
hapmaprs730880271
1000 genomesrs730880271
hgdprs730880271
ensemblrs730880271
gopubmedrs730880271
geneviewrs730880271
scholarrs730880271
googlers730880271
pharmgkbrs730880271
gwascentralrs730880271
openSNPrs730880271
23andMers730880271
23andMe allrs730880271
SNP Nexus

SNPshotrs730880271
SNPdbers730880271
MSV3drs730880271
GWAS Ctlgrs730880271
Max Magnitude0
ClinVar
Risk rs730880271(;)
Alt rs730880271(;)
Reference rs730880271(T;T)
Significance Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 1
HGVS NC_000005.9:g.33951694delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004764.4,