rs121965078

Orientation

plus

Stabilized

plus

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

Make rs121965078(A;G)

Make rs121965078(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

80173143

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs121965078
dbSNP (classic)	rs121965078
ClinGen	rs121965078
ebi	rs121965078
HLI	rs121965078
Exac	rs121965078
Gnomad	rs121965078
Varsome	rs121965078
LitVar	rs121965078
Map	rs121965078
PheGenI	rs121965078
Biobank	rs121965078
1000 genomes	rs121965078
hgdp	rs121965078
ensembl	rs121965078
geneview	rs121965078
scholar	rs121965078
google	rs121965078
pharmgkb	rs121965078
gwascentral	rs121965078
openSNP	rs121965078
23andMe	rs121965078
SNPshot	rs121965078
SNPdbe	rs121965078
MSV3d	rs121965078
GWAS Ctlg	rs121965078

Max Magnitude

0

OMIM	276700
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121965078(G;G)
Alt	rs121965078(G;G)
Reference	Rs121965078(A;A)
Significance	Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80465485A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012650.3,