rs796051892

Orientation

plus

Stabilized

plus

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

Make rs796051892(C;T)

Make rs796051892(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

123313913

Gene

SPATA5

is a	snp
is	mentioned by
dbSNP	rs796051892
dbSNP (classic)	rs796051892
ClinGen	rs796051892
ebi	rs796051892
HLI	rs796051892
Exac	rs796051892
Gnomad	rs796051892
Varsome	rs796051892
LitVar	rs796051892
Map	rs796051892
PheGenI	rs796051892
Biobank	rs796051892
1000 genomes	rs796051892
hgdp	rs796051892
ensembl	rs796051892
geneview	rs796051892
scholar	rs796051892
google	rs796051892
pharmgkb	rs796051892
gwascentral	rs796051892
openSNP	rs796051892
23andMe	rs796051892
SNPshot	rs796051892
SNPdbe	rs796051892
MSV3d	rs796051892
GWAS Ctlg	rs796051892

Max Magnitude

0

ClinVar
Risk	rs796051892(T;T)
Alt	rs796051892(T;T)
Reference	Rs796051892(C;C)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	SPATA5
CLNDBN	Epilepsy, hearing loss, and mental retardation syndrome
Reversed	0
HGVS	NC_000004.11:g.124235068C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000193832.2,