rs80338900

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80338900(A;A)

Make rs80338900(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

80180172

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs80338900
dbSNP (classic)	rs80338900
ClinGen	rs80338900
ebi	rs80338900
HLI	rs80338900
Exac	rs80338900
Gnomad	rs80338900
Varsome	rs80338900
LitVar	rs80338900
Map	rs80338900
PheGenI	rs80338900
Biobank	rs80338900
1000 genomes	rs80338900
hgdp	rs80338900
ensembl	rs80338900
geneview	rs80338900
scholar	rs80338900
google	rs80338900
pharmgkb	rs80338900
gwascentral	rs80338900
openSNP	rs80338900
23andMe	rs80338900
SNPshot	rs80338900
SNPdbe	rs80338900
MSV3d	rs80338900
GWAS Ctlg	rs80338900

Max Magnitude

0

OMIM	276700
Desc
Variant	0007
Related	also

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 UniProtKB (protein)
CLNACC	RCV000012644.8,

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