rs1060500907

Orientation

minus

Stabilized

minus

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

Make rs1060500907(-;-)

Make rs1060500907(-;AGCAG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

241497873

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs1060500907
dbSNP (classic)	rs1060500907
ClinGen	rs1060500907
ebi	rs1060500907
HLI	rs1060500907
Exac	rs1060500907
Gnomad	rs1060500907
Varsome	rs1060500907
LitVar	rs1060500907
Map	rs1060500907
PheGenI	rs1060500907
Biobank	rs1060500907
1000 genomes	rs1060500907
hgdp	rs1060500907
ensembl	rs1060500907
geneview	rs1060500907
scholar	rs1060500907
google	rs1060500907
pharmgkb	rs1060500907
gwascentral	rs1060500907
openSNP	rs1060500907
23andMe	rs1060500907
SNPshot	rs1060500907
SNPdbe	rs1060500907
MSV3d	rs1060500907
GWAS Ctlg	rs1060500907

Max Magnitude

0

ClinVar
Risk	rs1060500907(-;-)
Alt	rs1060500907(-;-)
Reference	Rs1060500907(AGCAG;AGCAG)
Significance	Probable-Pathogenic
Disease	Fumarase deficiency
Variation	info
Gene	FH
CLNDBN	Fumarase deficiency
Reversed	1
HGVS	NC_000001.10:g.241661173_241661177delCTGCT
CLNSRC
CLNACC	RCV000472606.1,