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rs1057516631

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516631(G;G)
Make rs1057516631(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80186207
GeneFAH
is asnp
is mentioned by
dbSNPrs1057516631
dbSNP (old)rs1057516631
ClinGenrs1057516631
ebirs1057516631
HLIrs1057516631
Exacrs1057516631
Gnomadrs1057516631
Varsomers1057516631
Maprs1057516631
PheGenIrs1057516631
Biobankrs1057516631
1000 genomesrs1057516631
hgdprs1057516631
ensemblrs1057516631
gopubmedrs1057516631
geneviewrs1057516631
scholarrs1057516631
googlers1057516631
pharmgkbrs1057516631
gwascentralrs1057516631
openSNPrs1057516631
23andMers1057516631
23andMe allrs1057516631
SNPshotrs1057516631
SNPdbers1057516631
MSV3drs1057516631
GWAS Ctlgrs1057516631
Max Magnitude0
ClinVar
Risk rs1057516631(C;C) rs1057516631(G;G)
Alt rs1057516631(C;C) rs1057516631(G;G)
Reference Rs1057516631(T;T)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80478549T>C; NC_000015.9:g.80478549T>G
CLNSRC
CLNACC RCV000410008.1, RCV000409632.1,