rs1057517201

Orientation

plus

Stabilized

plus

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

Make rs1057517201(A;A)

Make rs1057517201(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80177584

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057517201
dbSNP (classic)	rs1057517201
ClinGen	rs1057517201
ebi	rs1057517201
HLI	rs1057517201
Exac	rs1057517201
Gnomad	rs1057517201
Varsome	rs1057517201
LitVar	rs1057517201
Map	rs1057517201
PheGenI	rs1057517201
Biobank	rs1057517201
1000 genomes	rs1057517201
hgdp	rs1057517201
ensembl	rs1057517201
geneview	rs1057517201
scholar	rs1057517201
google	rs1057517201
pharmgkb	rs1057517201
gwascentral	rs1057517201
openSNP	rs1057517201
23andMe	rs1057517201
SNPshot	rs1057517201
SNPdbe	rs1057517201
MSV3d	rs1057517201
GWAS Ctlg	rs1057517201

Max Magnitude

0

ClinVar
Risk	rs1057517201(A;A)
Alt	rs1057517201(A;A)
Reference	Rs1057517201(G;G)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80469926G>A
CLNSRC
CLNACC	RCV000409775.1,