rs121965073

Orientation

plus

Stabilized

plus

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

Make rs121965073(A;T)

Make rs121965073(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

80153101

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs121965073
dbSNP (classic)	rs121965073
ClinGen	rs121965073
ebi	rs121965073
HLI	rs121965073
Exac	rs121965073
Gnomad	rs121965073
Varsome	rs121965073
LitVar	rs121965073
Map	rs121965073
PheGenI	rs121965073
Biobank	rs121965073
1000 genomes	rs121965073
hgdp	rs121965073
ensembl	rs121965073
geneview	rs121965073
scholar	rs121965073
google	rs121965073
pharmgkb	rs121965073
gwascentral	rs121965073
openSNP	rs121965073
23andMe	rs121965073
SNPshot	rs121965073
SNPdbe	rs121965073
MSV3d	rs121965073
GWAS Ctlg	rs121965073

Max Magnitude

0

OMIM	276700
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121965073(G;G) rs121965073(T;T)
Alt	rs121965073(G;G) rs121965073(T;T)
Reference	Rs121965073(A;A)
Significance	Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80445443A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012640.4,