rs1057517341

Orientation

plus

Stabilized

plus

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

Make rs1057517341(-;-)

Make rs1057517341(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80153068

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057517341
dbSNP (classic)	rs1057517341
ClinGen	rs1057517341
ebi	rs1057517341
HLI	rs1057517341
Exac	rs1057517341
Gnomad	rs1057517341
Varsome	rs1057517341
LitVar	rs1057517341
Map	rs1057517341
PheGenI	rs1057517341
Biobank	rs1057517341
1000 genomes	rs1057517341
hgdp	rs1057517341
ensembl	rs1057517341
geneview	rs1057517341
scholar	rs1057517341
google	rs1057517341
pharmgkb	rs1057517341
gwascentral	rs1057517341
openSNP	rs1057517341
23andMe	rs1057517341
SNPshot	rs1057517341
SNPdbe	rs1057517341
MSV3d	rs1057517341
GWAS Ctlg	rs1057517341

Max Magnitude

0

ClinVar
Risk	rs1057517341(-;-)
Alt	rs1057517341(-;-)
Reference	Rs1057517341(C;C)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80445410delC
CLNSRC
CLNACC	RCV000410365.1,