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rs1057518841

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518841(C;T)
Make rs1057518841(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position12695799
GeneTYRP1
is asnp
is mentioned by
dbSNPrs1057518841
dbSNP (old)rs1057518841
ClinGenrs1057518841
ebirs1057518841
HLIrs1057518841
Exacrs1057518841
Gnomadrs1057518841
Varsomers1057518841
Maprs1057518841
PheGenIrs1057518841
Biobankrs1057518841
1000 genomesrs1057518841
hgdprs1057518841
ensemblrs1057518841
gopubmedrs1057518841
geneviewrs1057518841
scholarrs1057518841
googlers1057518841
pharmgkbrs1057518841
gwascentralrs1057518841
openSNPrs1057518841
23andMers1057518841
23andMe allrs1057518841
SNPshotrs1057518841
SNPdbers1057518841
MSV3drs1057518841
GWAS Ctlgrs1057518841
Max Magnitude0
ClinVar
Risk rs1057518841(T;T)
Alt rs1057518841(T;T)
Reference Rs1057518841(C;C)
Significance Probable-Pathogenic
Disease Ocular albinism
Variation info
Gene TYRP1
CLNDBN Ocular albinism
Reversed 0
HGVS NC_000009.11:g.12695799C>T
CLNSRC
CLNACC RCV000415277.1,