rs75086406

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;G)	5	Associated with leiomyomatosis and possibly renal cell cancer
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

1

Position

241513679

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs75086406
dbSNP (classic)	rs75086406
ClinGen	rs75086406
ebi	rs75086406
HLI	rs75086406
Exac	rs75086406
Gnomad	rs75086406
Varsome	rs75086406
LitVar	rs75086406
Map	rs75086406
PheGenI	rs75086406
Biobank	rs75086406
1000 genomes	rs75086406
hgdp	rs75086406
ensembl	rs75086406
geneview	rs75086406
scholar	rs75086406
google	rs75086406
pharmgkb	rs75086406
gwascentral	rs75086406
openSNP	rs75086406
23andMe	rs75086406
SNPshot	rs75086406
SNPdbe	rs75086406
MSV3d	rs75086406
GWAS Ctlg	rs75086406

GMAF

0.0004591

Max Magnitude

5

OMIM	136850
Desc
Variant	0009
Related	also

ClinVar
Risk	rs75086406(A;A) Rs75086406(C;C)
Alt	rs75086406(A;A) Rs75086406(C;C)
Reference	Rs75086406(G;G)
Significance	Pathogenic
Disease	Hereditary leiomyomatosis and renal cell cancer not provided Fumarase deficiency
Variation	info
Gene	FH
CLNDBN	Hereditary leiomyomatosis and renal cell cancer not provided Fumarase deficiency
Reversed	1
HGVS	NC_000001.10:g.241676979C>G; NC_000001.10:g.241676979C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017625.29, RCV000489422.1, RCV000466487.1,