rs1057516368

Orientation

plus

Stabilized

plus

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

Make rs1057516368(-;-)

Make rs1057516368(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80173051

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057516368
dbSNP (classic)	rs1057516368
ClinGen	rs1057516368
ebi	rs1057516368
HLI	rs1057516368
Exac	rs1057516368
Gnomad	rs1057516368
Varsome	rs1057516368
LitVar	rs1057516368
Map	rs1057516368
PheGenI	rs1057516368
Biobank	rs1057516368
1000 genomes	rs1057516368
hgdp	rs1057516368
ensembl	rs1057516368
geneview	rs1057516368
scholar	rs1057516368
google	rs1057516368
pharmgkb	rs1057516368
gwascentral	rs1057516368
openSNP	rs1057516368
23andMe	rs1057516368
SNPshot	rs1057516368
SNPdbe	rs1057516368
MSV3d	rs1057516368
GWAS Ctlg	rs1057516368

Max Magnitude

0

ClinVar
Risk	rs1057516368(-;-)
Alt	rs1057516368(-;-)
Reference	Rs1057516368(G;G)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80465393delG
CLNSRC
CLNACC	RCV000409787.1,