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rs771712041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs771712041(A;A)
Make rs771712041(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position80172148
GeneFAH
is asnp
is mentioned by
dbSNPrs771712041
dbSNP (classic)rs771712041
ClinGenrs771712041
ebirs771712041
HLIrs771712041
Exacrs771712041
Gnomadrs771712041
Varsomers771712041
LitVarrs771712041
Maprs771712041
PheGenIrs771712041
Biobankrs771712041
1000 genomesrs771712041
hgdprs771712041
ensemblrs771712041
geneviewrs771712041
scholarrs771712041
googlers771712041
pharmgkbrs771712041
gwascentralrs771712041
openSNPrs771712041
23andMers771712041
SNPshotrs771712041
SNPdbers771712041
MSV3drs771712041
GWAS Ctlgrs771712041
Max Magnitude0
ClinVar
Risk rs771712041(A;A) rs771712041(C;C)
Alt rs771712041(A;A) rs771712041(C;C)
Reference Rs771712041(G;G)
Significance Probable-Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80464490G>A
CLNSRC
CLNACC RCV000169069.1,