rs1057517436

Orientation

plus

Stabilized

plus

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

Make rs1057517436(-;-)

Make rs1057517436(-;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80173087

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057517436
dbSNP (classic)	rs1057517436
ClinGen	rs1057517436
ebi	rs1057517436
HLI	rs1057517436
Exac	rs1057517436
Gnomad	rs1057517436
Varsome	rs1057517436
LitVar	rs1057517436
Map	rs1057517436
PheGenI	rs1057517436
Biobank	rs1057517436
1000 genomes	rs1057517436
hgdp	rs1057517436
ensembl	rs1057517436
geneview	rs1057517436
scholar	rs1057517436
google	rs1057517436
pharmgkb	rs1057517436
gwascentral	rs1057517436
openSNP	rs1057517436
23andMe	rs1057517436
SNPshot	rs1057517436
SNPdbe	rs1057517436
MSV3d	rs1057517436
GWAS Ctlg	rs1057517436

Max Magnitude

0

ClinVar
Risk	rs1057517436(-;-)
Alt	rs1057517436(-;-)
Reference	Rs1057517436(TC;TC)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80465429_80465430delTC
CLNSRC
CLNACC	RCV000411340.1,