rs863223994

Orientation

minus

Stabilized

minus

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

Make rs863223994(-;AAAATGGA)

Make rs863223994(AAAATGGA;AAAATGGA)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

241497923

Gene

FH

is a	snp
is	mentioned by
dbSNP	rs863223994
dbSNP (classic)	rs863223994
ClinGen	rs863223994
ebi	rs863223994
HLI	rs863223994
Exac	rs863223994
Gnomad	rs863223994
Varsome	rs863223994
LitVar	rs863223994
Map	rs863223994
PheGenI	rs863223994
Biobank	rs863223994
1000 genomes	rs863223994
hgdp	rs863223994
ensembl	rs863223994
geneview	rs863223994
scholar	rs863223994
google	rs863223994
pharmgkb	rs863223994
gwascentral	rs863223994
openSNP	rs863223994
23andMe	rs863223994
SNPshot	rs863223994
SNPdbe	rs863223994
MSV3d	rs863223994
GWAS Ctlg	rs863223994

Max Magnitude

0

ClinVar
Risk	rs863223994(AAAATGGA;AAAATGGA)
Alt	rs863223994(AAAATGGA;AAAATGGA)
Reference	Rs863223994(-;-)
Significance	Pathogenic
Disease	not provided Fumarase deficiency
Variation	info
Gene	FH
CLNDBN	not provided Fumarase deficiency
Reversed	1
HGVS	NC_000001.10:g.241661224_241661231dupTCCATTTT
CLNSRC
CLNACC	RCV000199224.1, RCV000473392.1,