rs398123166

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5	Hereditary leiomyomatosis and renal cell cancer

Make rs398123166(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

241508781

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs398123166
dbSNP (classic)	rs398123166
ClinGen	rs398123166
ebi	rs398123166
HLI	rs398123166
Exac	rs398123166
Gnomad	rs398123166
Varsome	rs398123166
LitVar	rs398123166
Map	rs398123166
PheGenI	rs398123166
Biobank	rs398123166
1000 genomes	rs398123166
hgdp	rs398123166
ensembl	rs398123166
geneview	rs398123166
scholar	rs398123166
google	rs398123166
pharmgkb	rs398123166
gwascentral	rs398123166
openSNP	rs398123166
23andMe	rs398123166
SNPshot	rs398123166
SNPdbe	rs398123166
MSV3d	rs398123166
GWAS Ctlg	rs398123166

Max Magnitude

5

ClinVar
Risk	rs398123166(A;A) rs398123166(G;G) rs398123166(T;T)
Alt	rs398123166(A;A) rs398123166(G;G) rs398123166(T;T)
Reference	Rs398123166(C;C)
Significance	Pathogenic
Disease	Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome not provided Fumarase deficiency
Variation	info
Gene	FH
CLNDBN	Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome not provided Fumarase deficiency
Reversed	1
HGVS	NC_000001.10:g.241672081G>A; NC_000001.10:g.241672081G>C; NC_000001.10:g.241672081G>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000445604.1, RCV000492920.1, RCV000078150.4, RCV000445585.1, RCV000473262.1,