rs398122967

Orientation

plus

Stabilized

plus

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

Make rs398122967(-;-)

Make rs398122967(-;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2498262

Gene

TBC1D24

is a	snp
is	mentioned by
dbSNP	rs398122967
dbSNP (classic)	rs398122967
ClinGen	rs398122967
ebi	rs398122967
HLI	rs398122967
Exac	rs398122967
Gnomad	rs398122967
Varsome	rs398122967
LitVar	rs398122967
Map	rs398122967
PheGenI	rs398122967
Biobank	rs398122967
1000 genomes	rs398122967
hgdp	rs398122967
ensembl	rs398122967
geneview	rs398122967
scholar	rs398122967
google	rs398122967
pharmgkb	rs398122967
gwascentral	rs398122967
openSNP	rs398122967
23andMe	rs398122967
SNPshot	rs398122967
SNPdbe	rs398122967
MSV3d	rs398122967
GWAS Ctlg	rs398122967

Max Magnitude

0

ClinVar
Risk	rs398122967(-;-)
Alt	rs398122967(-;-)
Reference	Rs398122967(T;T)
Significance	Pathogenic
Disease	Digitorenocerebral syndrome not provided Caused by mutation in the TBC1 domain family Deafness Epileptic encephalopathy
Variation	info
Gene	TBC1D24
CLNDBN	Digitorenocerebral syndrome not provided Caused by mutation in the TBC1 domain family, member 24 Deafness, autosomal dominant 65 Epileptic encephalopathy, early infantile, 1
Reversed	0
HGVS	NC_000016.9:g.2548263delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000076916.7, RCV000189708.2, RCV000470479.1,