rs863223978

Orientation

minus

Stabilized

minus

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

Make rs863223978(C;C)

Make rs863223978(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

241497971

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs863223978
dbSNP (classic)	rs863223978
ClinGen	rs863223978
ebi	rs863223978
HLI	rs863223978
Exac	rs863223978
Gnomad	rs863223978
Varsome	rs863223978
LitVar	rs863223978
Map	rs863223978
PheGenI	rs863223978
Biobank	rs863223978
1000 genomes	rs863223978
hgdp	rs863223978
ensembl	rs863223978
geneview	rs863223978
scholar	rs863223978
google	rs863223978
pharmgkb	rs863223978
gwascentral	rs863223978
openSNP	rs863223978
23andMe	rs863223978
SNPshot	rs863223978
SNPdbe	rs863223978
MSV3d	rs863223978
GWAS Ctlg	rs863223978

Max Magnitude

0

ClinVar
Risk	rs863223978(A;A) rs863223978(C;C)
Alt	rs863223978(A;A) rs863223978(C;C)
Reference	Rs863223978(G;G)
Significance	Pathogenic
Disease	not provided Fumarase deficiency
Variation	info
Gene	FH
CLNDBN	not provided Fumarase deficiency
Reversed	1
HGVS	NC_000001.10:g.241661271C>G; NC_000001.10:g.241661271C>T
CLNSRC
CLNACC	RCV000196540.2, RCV000466829.1,