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rs104894130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894130(C;G)
Make rs104894130(G;G)
ReferenceGRCh37 37.1/132
Chromosome9
Position12695626
GeneTYRP1
is asnp
is mentioned by
dbSNPrs104894130
ebirs104894130
HLIrs104894130
Exacrs104894130
Varsomers104894130
Maprs104894130
PheGenIrs104894130
hapmaprs104894130
1000 genomesrs104894130
hgdprs104894130
ensemblrs104894130
gopubmedrs104894130
geneviewrs104894130
scholarrs104894130
googlers104894130
pharmgkbrs104894130
gwascentralrs104894130
openSNPrs104894130
23andMers104894130
23andMe allrs104894130
SNP Nexus

SNPshotrs104894130
SNPdbers104894130
MSV3drs104894130
GWAS Ctlgrs104894130
Max Magnitude0
OMIM115501
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894130(G;G)
Alt rs104894130(G;G)
Reference rs104894130(C;C)
Significance Other
Disease Oculocutaneous albinism type 3 OCULOCUTANEOUS ALBINISM
Variation info
Gene TYRP1
CLNDBN Oculocutaneous albinism type 3 OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
Reversed 0
HGVS NC_000009.11:g.12695626C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019159.25, RCV000019160.26,