rs121965077

Orientation

plus

Stabilized

plus

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

Make rs121965077(A;G)

Make rs121965077(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

80181120

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs121965077
dbSNP (classic)	rs121965077
ClinGen	rs121965077
ebi	rs121965077
HLI	rs121965077
Exac	rs121965077
Gnomad	rs121965077
Varsome	rs121965077
LitVar	rs121965077
Map	rs121965077
PheGenI	rs121965077
Biobank	rs121965077
1000 genomes	rs121965077
hgdp	rs121965077
ensembl	rs121965077
geneview	rs121965077
scholar	rs121965077
google	rs121965077
pharmgkb	rs121965077
gwascentral	rs121965077
openSNP	rs121965077
23andMe	rs121965077
SNPshot	rs121965077
SNPdbe	rs121965077
MSV3d	rs121965077
GWAS Ctlg	rs121965077

Max Magnitude

0

OMIM	276700
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121965077(G;G)
Alt	rs121965077(G;G)
Reference	Rs121965077(A;A)
Significance	Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80473462A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012647.5,