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rs80338900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338900(A;A)
Make rs80338900(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position80180172
GeneFAH
is asnp
is mentioned by
dbSNPrs80338900
ebirs80338900
HLIrs80338900
Exacrs80338900
Varsomers80338900
Maprs80338900
PheGenIrs80338900
hapmaprs80338900
1000 genomesrs80338900
hgdprs80338900
ensemblrs80338900
gopubmedrs80338900
geneviewrs80338900
scholarrs80338900
googlers80338900
pharmgkbrs80338900
gwascentralrs80338900
openSNPrs80338900
23andMers80338900
23andMe allrs80338900
SNP Nexus

SNPshotrs80338900
SNPdbers80338900
MSV3drs80338900
GWAS Ctlgrs80338900
Max Magnitude0
OMIM276700
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80338900(A;A)
Alt rs80338900(A;A)
Reference rs80338900(G;G)
Significance Other
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80472514G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012644.8,


[PMID 7757089] Two novel mutations involved in hereditary tyrosinemia type I.