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rs1057516679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516679(A;A)
Make rs1057516679(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position80162336
GeneFAH
is asnp
is mentioned by
dbSNPrs1057516679
dbSNP (classic)rs1057516679
ClinGenrs1057516679
ebirs1057516679
HLIrs1057516679
Exacrs1057516679
Gnomadrs1057516679
Varsomers1057516679
LitVarrs1057516679
Maprs1057516679
PheGenIrs1057516679
Biobankrs1057516679
1000 genomesrs1057516679
hgdprs1057516679
ensemblrs1057516679
geneviewrs1057516679
scholarrs1057516679
googlers1057516679
pharmgkbrs1057516679
gwascentralrs1057516679
openSNPrs1057516679
23andMers1057516679
23andMe allrs1057516679
SNPshotrs1057516679
SNPdbers1057516679
MSV3drs1057516679
GWAS Ctlgrs1057516679
Max Magnitude0
ClinVar
Risk rs1057516679(A;A)
Alt rs1057516679(A;A)
Reference Rs1057516679(G;G)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80454678G>A
CLNSRC
CLNACC RCV000409617.1,