rs121965074

Orientation

plus

Stabilized

plus

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

Make rs121965074(A;A)

Make rs121965074(A;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

80162282

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs121965074
dbSNP (classic)	rs121965074
ClinGen	rs121965074
ebi	rs121965074
HLI	rs121965074
Exac	rs121965074
Gnomad	rs121965074
Varsome	rs121965074
LitVar	rs121965074
Map	rs121965074
PheGenI	rs121965074
Biobank	rs121965074
1000 genomes	rs121965074
hgdp	rs121965074
ensembl	rs121965074
geneview	rs121965074
scholar	rs121965074
google	rs121965074
pharmgkb	rs121965074
gwascentral	rs121965074
openSNP	rs121965074
23andMe	rs121965074
SNPshot	rs121965074
SNPdbe	rs121965074
MSV3d	rs121965074
GWAS Ctlg	rs121965074

Max Magnitude

0

OMIM	276700
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121965074(A;A)
Alt	rs121965074(A;A)
Reference	Rs121965074(C;C)
Significance	Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80454624C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012641.3,