rs1060499639

Orientation

minus

Stabilized

minus

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

Make rs1060499639(C;C)

Make rs1060499639(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

241506084

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs1060499639
dbSNP (classic)	rs1060499639
ClinGen	rs1060499639
ebi	rs1060499639
HLI	rs1060499639
Exac	rs1060499639
Gnomad	rs1060499639
Varsome	rs1060499639
LitVar	rs1060499639
Map	rs1060499639
PheGenI	rs1060499639
Biobank	rs1060499639
1000 genomes	rs1060499639
hgdp	rs1060499639
ensembl	rs1060499639
geneview	rs1060499639
scholar	rs1060499639
google	rs1060499639
pharmgkb	rs1060499639
gwascentral	rs1060499639
openSNP	rs1060499639
23andMe	rs1060499639
SNPshot	rs1060499639
SNPdbe	rs1060499639
MSV3d	rs1060499639
GWAS Ctlg	rs1060499639

Max Magnitude

0

ClinVar
Risk	rs1060499639(A;A) rs1060499639(C;C)
Alt	rs1060499639(A;A) rs1060499639(C;C)
Reference	Rs1060499639(G;G)
Significance	Probable-Pathogenic
Disease	Hereditary leiomyomatosis and renal cell cancer not specified Hereditary cancer-predisposing syndrome Fumarase deficiency
Variation	info
Gene	FH
CLNDBN	Hereditary leiomyomatosis and renal cell cancer not specified Hereditary cancer-predisposing syndrome Fumarase deficiency
Reversed	1
HGVS	NC_000001.10:g.241669384C>G; NC_000001.10:g.241669384C>T
CLNSRC
CLNACC	RCV000445614.1, RCV000489286.1, RCV000494229.1, RCV000460545.1,