rs1057516333

Orientation

plus

Stabilized

plus

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

Make rs1057516333(A;A)

Make rs1057516333(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80186129

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057516333
dbSNP (classic)	rs1057516333
ClinGen	rs1057516333
ebi	rs1057516333
HLI	rs1057516333
Exac	rs1057516333
Gnomad	rs1057516333
Varsome	rs1057516333
LitVar	rs1057516333
Map	rs1057516333
PheGenI	rs1057516333
Biobank	rs1057516333
1000 genomes	rs1057516333
hgdp	rs1057516333
ensembl	rs1057516333
geneview	rs1057516333
scholar	rs1057516333
google	rs1057516333
pharmgkb	rs1057516333
gwascentral	rs1057516333
openSNP	rs1057516333
23andMe	rs1057516333
SNPshot	rs1057516333
SNPdbe	rs1057516333
MSV3d	rs1057516333
GWAS Ctlg	rs1057516333

Max Magnitude

0

ClinVar
Risk	rs1057516333(A;A)
Alt	rs1057516333(A;A)
Reference	Rs1057516333(G;G)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80478471G>A
CLNSRC
CLNACC	RCV000411156.1,