rs1057517084

Orientation

plus

Stabilized

plus

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

Make rs1057517084(-;-)

Make rs1057517084(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

80172157

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs1057517084
dbSNP (classic)	rs1057517084
ClinGen	rs1057517084
ebi	rs1057517084
HLI	rs1057517084
Exac	rs1057517084
Gnomad	rs1057517084
Varsome	rs1057517084
LitVar	rs1057517084
Map	rs1057517084
PheGenI	rs1057517084
Biobank	rs1057517084
1000 genomes	rs1057517084
hgdp	rs1057517084
ensembl	rs1057517084
geneview	rs1057517084
scholar	rs1057517084
google	rs1057517084
pharmgkb	rs1057517084
gwascentral	rs1057517084
openSNP	rs1057517084
23andMe	rs1057517084
SNPshot	rs1057517084
SNPdbe	rs1057517084
MSV3d	rs1057517084
GWAS Ctlg	rs1057517084

Max Magnitude

0

ClinVar
Risk	rs1057517084(-;-)
Alt	rs1057517084(-;-)
Reference	Rs1057517084(T;T)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80464499delT
CLNSRC
CLNACC	RCV000409747.1,