rs1057516679

Orientation

plus

Stabilized

plus

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

Make rs1057516679(A;A)

Make rs1057516679(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80162336

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057516679
dbSNP (classic)	rs1057516679
ClinGen	rs1057516679
ebi	rs1057516679
HLI	rs1057516679
Exac	rs1057516679
Gnomad	rs1057516679
Varsome	rs1057516679
LitVar	rs1057516679
Map	rs1057516679
PheGenI	rs1057516679
Biobank	rs1057516679
1000 genomes	rs1057516679
hgdp	rs1057516679
ensembl	rs1057516679
geneview	rs1057516679
scholar	rs1057516679
google	rs1057516679
pharmgkb	rs1057516679
gwascentral	rs1057516679
openSNP	rs1057516679
23andMe	rs1057516679
SNPshot	rs1057516679
SNPdbe	rs1057516679
MSV3d	rs1057516679
GWAS Ctlg	rs1057516679

Max Magnitude

0

ClinVar
Risk	rs1057516679(A;A)
Alt	rs1057516679(A;A)
Reference	Rs1057516679(G;G)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80454678G>A
CLNSRC
CLNACC	RCV000409617.1,