rs387906545

Orientation

minus

Stabilized

minus

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

Make rs387906545(A;A)

Make rs387906545(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

241506114

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs387906545
dbSNP (classic)	rs387906545
ClinGen	rs387906545
ebi	rs387906545
HLI	rs387906545
Exac	rs387906545
Gnomad	rs387906545
Varsome	rs387906545
LitVar	rs387906545
Map	rs387906545
PheGenI	rs387906545
Biobank	rs387906545
1000 genomes	rs387906545
hgdp	rs387906545
ensembl	rs387906545
geneview	rs387906545
scholar	rs387906545
google	rs387906545
pharmgkb	rs387906545
gwascentral	rs387906545
openSNP	rs387906545
23andMe	rs387906545
SNPshot	rs387906545
SNPdbe	rs387906545
MSV3d	rs387906545
GWAS Ctlg	rs387906545

Max Magnitude

0

ClinVar
Risk	rs387906545(A;A)
Alt	rs387906545(A;A)
Reference	Rs387906545(G;G)
Significance	Pathogenic
Disease	Fumarase deficiency
Variation	info
Gene	FH
CLNDBN	Fumarase deficiency
Reversed	1
HGVS	NC_000001.10:g.241669414C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017617.23,