rs786204683

Orientation

plus

Stabilized

plus

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

Make rs786204683(G;T)

Make rs786204683(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

80158171

Gene

FAH

is a	snp
is	mentioned by
dbSNP	rs786204683
dbSNP (classic)	rs786204683
ClinGen	rs786204683
ebi	rs786204683
HLI	rs786204683
Exac	rs786204683
Gnomad	rs786204683
Varsome	rs786204683
LitVar	rs786204683
Map	rs786204683
PheGenI	rs786204683
Biobank	rs786204683
1000 genomes	rs786204683
hgdp	rs786204683
ensembl	rs786204683
geneview	rs786204683
scholar	rs786204683
google	rs786204683
pharmgkb	rs786204683
gwascentral	rs786204683
openSNP	rs786204683
23andMe	rs786204683
SNPshot	rs786204683
SNPdbe	rs786204683
MSV3d	rs786204683
GWAS Ctlg	rs786204683

Max Magnitude

0

ClinVar
Risk	rs786204683(T;T)
Alt	rs786204683(T;T)
Reference	Rs786204683(G;G)
Significance	Probable-Pathogenic
Disease	Tyrosinemia type I
Variation	info
Gene	FAH
CLNDBN	Tyrosinemia type I
Reversed	0
HGVS	NC_000015.9:g.80450513G>T
CLNSRC
CLNACC	RCV000169491.1,