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rs730880270

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880270(A;A)
Make rs730880270(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position33964017
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs730880270
ebirs730880270
HLIrs730880270
Exacrs730880270
Varsomers730880270
Maprs730880270
PheGenIrs730880270
hapmaprs730880270
1000 genomesrs730880270
hgdprs730880270
ensemblrs730880270
gopubmedrs730880270
geneviewrs730880270
scholarrs730880270
googlers730880270
pharmgkbrs730880270
gwascentralrs730880270
openSNPrs730880270
23andMers730880270
23andMe allrs730880270
SNP Nexus

SNPshotrs730880270
SNPdbers730880270
MSV3drs730880270
GWAS Ctlgrs730880270
Max Magnitude0
ClinVar
Risk rs730880270(A;A)
Alt rs730880270(A;A)
Reference rs730880270(G;G)
Significance Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 1
HGVS NC_000005.9:g.33964122C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004756.3,