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rs587776511

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776511(A;A)
Make rs587776511(A;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position71569894
GeneTAT, TAT-AS1
is asnp
is mentioned by
dbSNPrs587776511
dbSNP (classic)rs587776511
ClinGenrs587776511
ebirs587776511
HLIrs587776511
Exacrs587776511
Gnomadrs587776511
Varsomers587776511
LitVarrs587776511
Maprs587776511
PheGenIrs587776511
Biobankrs587776511
1000 genomesrs587776511
hgdprs587776511
ensemblrs587776511
geneviewrs587776511
scholarrs587776511
googlers587776511
pharmgkbrs587776511
gwascentralrs587776511
openSNPrs587776511
23andMers587776511
SNPshotrs587776511
SNPdbers587776511
MSV3drs587776511
GWAS Ctlgrs587776511
Max Magnitude0
ClinVar
Risk rs587776511(A;A) Rs587776511(C;C)
Alt rs587776511(A;A) Rs587776511(C;C)
Reference Rs587776511(G;G)
Significance Pathogenic
Disease Tyrosinemia type 2
Variation info
Gene TAT-AS1 TAT
CLNDBN Tyrosinemia type 2
Reversed 1
HGVS NC_000016.9:g.71603797C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000432.3,