rs121965075

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	carrier for a tyrosinemia type I allele
(T;T)	5	Tyrosinemia type I

Reference

GRCh38 38.1/141

Chromosome

15

Position

80181048

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs121965075
dbSNP (classic)	rs121965075
ClinGen	rs121965075
ebi	rs121965075
HLI	rs121965075
Exac	rs121965075
Gnomad	rs121965075
Varsome	rs121965075
LitVar	rs121965075
Map	rs121965075
PheGenI	rs121965075
Biobank	rs121965075
1000 genomes	rs121965075
hgdp	rs121965075
ensembl	rs121965075
geneview	rs121965075
scholar	rs121965075
google	rs121965075
pharmgkb	rs121965075
gwascentral	rs121965075
openSNP	rs121965075
23andMe	rs121965075
SNPshot	rs121965075
SNPdbe	rs121965075
MSV3d	rs121965075
GWAS Ctlg	rs121965075

Max Magnitude

5

OMIM	276700
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs121965075(T;T)
Alt	Rs121965075(T;T)
Reference	Rs121965075(G;G)
Significance	Other
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80473390G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012646.5,