rs1057517113

Orientation

plus

Stabilized

plus

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

Make rs1057517113(-;-)

Make rs1057517113(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80168088

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057517113
dbSNP (classic)	rs1057517113
ClinGen	rs1057517113
ebi	rs1057517113
HLI	rs1057517113
Exac	rs1057517113
Gnomad	rs1057517113
Varsome	rs1057517113
LitVar	rs1057517113
Map	rs1057517113
PheGenI	rs1057517113
Biobank	rs1057517113
1000 genomes	rs1057517113
hgdp	rs1057517113
ensembl	rs1057517113
geneview	rs1057517113
scholar	rs1057517113
google	rs1057517113
pharmgkb	rs1057517113
gwascentral	rs1057517113
openSNP	rs1057517113
23andMe	rs1057517113
SNPshot	rs1057517113
SNPdbe	rs1057517113
MSV3d	rs1057517113
GWAS Ctlg	rs1057517113

Max Magnitude

0

ClinVar
Risk	rs1057517113(-;-)
Alt	rs1057517113(-;-)
Reference	Rs1057517113(C;C)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80460430delC
CLNSRC
CLNACC	RCV000409803.1,