rs1057516934

Orientation

plus

Stabilized

plus

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

Make rs1057516934(A;A)

Make rs1057516934(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80153056

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057516934
dbSNP (classic)	rs1057516934
ClinGen	rs1057516934
ebi	rs1057516934
HLI	rs1057516934
Exac	rs1057516934
Gnomad	rs1057516934
Varsome	rs1057516934
LitVar	rs1057516934
Map	rs1057516934
PheGenI	rs1057516934
Biobank	rs1057516934
1000 genomes	rs1057516934
hgdp	rs1057516934
ensembl	rs1057516934
geneview	rs1057516934
scholar	rs1057516934
google	rs1057516934
pharmgkb	rs1057516934
gwascentral	rs1057516934
openSNP	rs1057516934
23andMe	rs1057516934
SNPshot	rs1057516934
SNPdbe	rs1057516934
MSV3d	rs1057516934
GWAS Ctlg	rs1057516934

Max Magnitude

0

ClinVar
Risk	rs1057516934(A;A)
Alt	rs1057516934(A;A)
Reference	Rs1057516934(T;T)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80445398T>A
CLNSRC
CLNACC	RCV000412267.1,