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rs370686447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370686447(A;A)
Make rs370686447(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position80168052
GeneFAH
is asnp
is mentioned by
dbSNPrs370686447
dbSNP (classic)rs370686447
ClinGenrs370686447
ebirs370686447
HLIrs370686447
Exacrs370686447
Gnomadrs370686447
Varsomers370686447
LitVarrs370686447
Maprs370686447
PheGenIrs370686447
Biobankrs370686447
1000 genomesrs370686447
hgdprs370686447
ensemblrs370686447
geneviewrs370686447
scholarrs370686447
googlers370686447
pharmgkbrs370686447
gwascentralrs370686447
openSNPrs370686447
23andMers370686447
SNPshotrs370686447
SNPdbers370686447
MSV3drs370686447
GWAS Ctlgrs370686447
Max Magnitude0
ClinVar
Risk rs370686447(A;A) rs370686447(T;T)
Alt rs370686447(A;A) rs370686447(T;T)
Reference Rs370686447(G;G)
Significance Pathogenic
Disease not provided Tyrosinemia type I
Variation info
Gene FAH
CLNDBN not provided Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80460394G>A
CLNSRC ClinVar Emory University
CLNACC RCV000078137.3, RCV000179256.1,