rs387906546

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 rs387906546(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

241517258

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs387906546
dbSNP (classic)	rs387906546
ClinGen	rs387906546
ebi	rs387906546
HLI	rs387906546
Exac	rs387906546
Gnomad	rs387906546
Varsome	rs387906546
LitVar	rs387906546
Map	rs387906546
PheGenI	rs387906546
Biobank	rs387906546
1000 genomes	rs387906546
hgdp	rs387906546
ensembl	rs387906546
geneview	rs387906546
scholar	rs387906546
google	rs387906546
pharmgkb	rs387906546
gwascentral	rs387906546
openSNP	rs387906546
23andMe	rs387906546
SNPshot	rs387906546
SNPdbe	rs387906546
MSV3d	rs387906546
GWAS Ctlg	rs387906546

Max Magnitude

5

ClinVar
Risk	rs387906546(C;C)
Alt	rs387906546(C;C)
Reference	Rs387906546(A;A)
Significance	Pathogenic
Disease	Hereditary leiomyomatosis and renal cell cancer
Variation	info
Gene	FH
CLNDBN	Hereditary leiomyomatosis and renal cell cancer
Reversed	1
HGVS	NC_000001.10:g.241680558T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017620.26,