rs1057516408

Orientation

plus

Stabilized

plus

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

Make rs1057516408(A;A)

Make rs1057516408(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80159878

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057516408
dbSNP (classic)	rs1057516408
ClinGen	rs1057516408
ebi	rs1057516408
HLI	rs1057516408
Exac	rs1057516408
Gnomad	rs1057516408
Varsome	rs1057516408
LitVar	rs1057516408
Map	rs1057516408
PheGenI	rs1057516408
Biobank	rs1057516408
1000 genomes	rs1057516408
hgdp	rs1057516408
ensembl	rs1057516408
geneview	rs1057516408
scholar	rs1057516408
google	rs1057516408
pharmgkb	rs1057516408
gwascentral	rs1057516408
openSNP	rs1057516408
23andMe	rs1057516408
SNPshot	rs1057516408
SNPdbe	rs1057516408
MSV3d	rs1057516408
GWAS Ctlg	rs1057516408

Max Magnitude

0

ClinVar
Risk	rs1057516408(A;A)
Alt	rs1057516408(A;A)
Reference	Rs1057516408(G;G)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80452220G>A
CLNSRC
CLNACC	RCV000410626.1,