rs121913121

Orientation

minus

Stabilized

minus

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

Make rs121913121(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

241513661

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs121913121
dbSNP (classic)	rs121913121
ClinGen	rs121913121
ebi	rs121913121
HLI	rs121913121
Exac	rs121913121
Gnomad	rs121913121
Varsome	rs121913121
LitVar	rs121913121
Map	rs121913121
PheGenI	rs121913121
Biobank	rs121913121
1000 genomes	rs121913121
hgdp	rs121913121
ensembl	rs121913121
geneview	rs121913121
scholar	rs121913121
google	rs121913121
pharmgkb	rs121913121
gwascentral	rs121913121
openSNP	rs121913121
23andMe	rs121913121
SNPshot	rs121913121
SNPdbe	rs121913121
MSV3d	rs121913121
GWAS Ctlg	rs121913121

Max Magnitude

5

OMIM	136850
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121913121(C;C)
Alt	rs121913121(C;C)
Reference	Rs121913121(A;A)
Significance	Pathogenic
Disease	Hereditary leiomyomatosis and renal cell cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	FH
CLNDBN	Hereditary leiomyomatosis and renal cell cancer not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000001.10:g.241676961T>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017620.30, RCV000078148.6, RCV000493777.1,