rs863225243

Orientation

minus

Stabilized

minus

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

Make rs863225243(C;T)

Make rs863225243(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

141528456

Gene

DIAPH1

is a	snp
is	mentioned by
dbSNP	rs863225243
dbSNP (classic)	rs863225243
ClinGen	rs863225243
ebi	rs863225243
HLI	rs863225243
Exac	rs863225243
Gnomad	rs863225243
Varsome	rs863225243
LitVar	rs863225243
Map	rs863225243
PheGenI	rs863225243
Biobank	rs863225243
1000 genomes	rs863225243
hgdp	rs863225243
ensembl	rs863225243
geneview	rs863225243
scholar	rs863225243
google	rs863225243
pharmgkb	rs863225243
gwascentral	rs863225243
openSNP	rs863225243
23andMe	rs863225243
SNPshot	rs863225243
SNPdbe	rs863225243
MSV3d	rs863225243
GWAS Ctlg	rs863225243

Max Magnitude

0

ClinVar
Risk	rs863225243(T;T)
Alt	rs863225243(T;T)
Reference	Rs863225243(C;C)
Significance	Pathogenic
Disease	Seizures not provided
Variation	info
Gene	DIAPH1
CLNDBN	Seizures, cortical blindness, and microcephaly syndrome not provided
Reversed	1
HGVS	NC_000005.9:g.140908023G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000201798.2, RCV000255778.1,