rs201740530

Orientation

plus

Stabilized

plus

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

Make rs201740530(C;T)

Make rs201740530(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

100233436

Gene

SPAG1

is a	snp
is	mentioned by
dbSNP	rs201740530
dbSNP (classic)	rs201740530
ClinGen	rs201740530
ebi	rs201740530
HLI	rs201740530
Exac	rs201740530
Gnomad	rs201740530
Varsome	rs201740530
LitVar	rs201740530
Map	rs201740530
PheGenI	rs201740530
Biobank	rs201740530
1000 genomes	rs201740530
hgdp	rs201740530
ensembl	rs201740530
geneview	rs201740530
scholar	rs201740530
google	rs201740530
pharmgkb	rs201740530
gwascentral	rs201740530
openSNP	rs201740530
23andMe	rs201740530
SNPshot	rs201740530
SNPdbe	rs201740530
MSV3d	rs201740530
GWAS Ctlg	rs201740530

Max Magnitude

0

ClinVar
Risk	rs201740530(T;T)
Alt	rs201740530(T;T)
Reference	Rs201740530(C;C)
Significance	Pathogenic
Disease	Epilepsy Kartagener syndrome
Variation	info
Gene	SPAG1
CLNDBN	Epilepsy, nocturnal frontal lobe, 5 Kartagener syndrome
Reversed	0
HGVS	NC_000008.10:g.101245664C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000074366.3, RCV000190929.1,