rs863224931

Orientation

plus

Stabilized

plus

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

Make rs863224931(C;C)

Make rs863224931(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2499864

Gene

TBC1D24

is a	snp
is	mentioned by
dbSNP	rs863224931
dbSNP (classic)	rs863224931
ClinGen	rs863224931
ebi	rs863224931
HLI	rs863224931
Exac	rs863224931
Gnomad	rs863224931
Varsome	rs863224931
LitVar	rs863224931
Map	rs863224931
PheGenI	rs863224931
Biobank	rs863224931
1000 genomes	rs863224931
hgdp	rs863224931
ensembl	rs863224931
geneview	rs863224931
scholar	rs863224931
google	rs863224931
pharmgkb	rs863224931
gwascentral	rs863224931
openSNP	rs863224931
23andMe	rs863224931
SNPshot	rs863224931
SNPdbe	rs863224931
MSV3d	rs863224931
GWAS Ctlg	rs863224931

Max Magnitude

0

ClinVar
Risk	rs863224931(C;C)
Alt	rs863224931(C;C)
Reference	Rs863224931(G;G)
Significance	Probable-Pathogenic
Disease	Digitorenocerebral syndrome Early infantile epileptic encephalopathy 16 Myoclonic epilepsy
Variation	info
Gene	TBC1D24
CLNDBN	Digitorenocerebral syndrome Early infantile epileptic encephalopathy 16 Myoclonic epilepsy, familial infantile
Reversed	0
HGVS	NC_000016.9:g.2549865G>C
CLNSRC
CLNACC	RCV000200681.1,