rs121913119

Orientation

minus

Stabilized

minus

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

Make rs121913119(C;C)

Make rs121913119(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

241504066

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs121913119
dbSNP (classic)	rs121913119
ClinGen	rs121913119
ebi	rs121913119
HLI	rs121913119
Exac	rs121913119
Gnomad	rs121913119
Varsome	rs121913119
LitVar	rs121913119
Map	rs121913119
PheGenI	rs121913119
Biobank	rs121913119
1000 genomes	rs121913119
hgdp	rs121913119
ensembl	rs121913119
geneview	rs121913119
scholar	rs121913119
google	rs121913119
pharmgkb	rs121913119
gwascentral	rs121913119
openSNP	rs121913119
23andMe	rs121913119
SNPshot	rs121913119
SNPdbe	rs121913119
MSV3d	rs121913119
GWAS Ctlg	rs121913119

Max Magnitude

0

OMIM	136850
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121913119(C;C)
Alt	rs121913119(C;C)
Reference	Rs121913119(G;G)
Significance	Pathogenic
Disease	Fumarase deficiency
Variation	info
Gene	FH
CLNDBN	Fumarase deficiency
Reversed	1
HGVS	NC_000001.10:g.241667366C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017618.28,