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rs387906562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
(ACAA;ACAA) 0 common in clinvar
Make rs387906562(-;-)
Make rs387906562(-;AACA)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position12702414
GeneTYRP1
is asnp
is mentioned by
dbSNPrs387906562
ebirs387906562
HLIrs387906562
Exacrs387906562
Varsomers387906562
Maprs387906562
PheGenIrs387906562
hapmaprs387906562
1000 genomesrs387906562
hgdprs387906562
ensemblrs387906562
gopubmedrs387906562
geneviewrs387906562
scholarrs387906562
googlers387906562
pharmgkbrs387906562
gwascentralrs387906562
openSNPrs387906562
23andMers387906562
23andMe allrs387906562
SNP Nexus

SNPshotrs387906562
SNPdbers387906562
MSV3drs387906562
GWAS Ctlgrs387906562
Max Magnitude0
ClinVar
Risk rs387906562(;)
Alt rs387906562(;)
Reference rs387906562(ACAA;ACAA)
Significance Pathogenic
Disease Oculocutaneous albinism type 3
Variation info
Gene TYRP1 LURAP1L-AS1
CLNDBN Oculocutaneous albinism type 3
Reversed 0
HGVS NC_000009.11:g.12702414_12702417delAACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000019164.25,