rs181969865

Orientation

plus

Stabilized

plus

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

Make rs181969865(C;T)

Make rs181969865(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

82924992

Gene

TBCD

is a	snp
is	mentioned by
dbSNP	rs181969865
dbSNP (classic)	rs181969865
ClinGen	rs181969865
ebi	rs181969865
HLI	rs181969865
Exac	rs181969865
Gnomad	rs181969865
Varsome	rs181969865
LitVar	rs181969865
Map	rs181969865
PheGenI	rs181969865
Biobank	rs181969865
1000 genomes	rs181969865
hgdp	rs181969865
ensembl	rs181969865
geneview	rs181969865
scholar	rs181969865
google	rs181969865
pharmgkb	rs181969865
gwascentral	rs181969865
openSNP	rs181969865
23andMe	rs181969865
SNPshot	rs181969865
SNPdbe	rs181969865
MSV3d	rs181969865
GWAS Ctlg	rs181969865

Max Magnitude

0

ClinVar
Risk	rs181969865(T;T)
Alt	rs181969865(T;T)
Reference	Rs181969865(C;C)
Significance	Pathogenic
Disease	Encephalopathy
Variation	info
Gene	TBCD
CLNDBN	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
Reversed	0
HGVS	NC_000017.10:g.80882868C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000258905.1,