rs137853047

Orientation

minus

Stabilized

minus

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

Make rs137853047(C;T)

Make rs137853047(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49185110

Gene

TUBA1A

is a	snp
is	mentioned by
dbSNP	rs137853047
dbSNP (classic)	rs137853047
ClinGen	rs137853047
ebi	rs137853047
HLI	rs137853047
Exac	rs137853047
Gnomad	rs137853047
Varsome	rs137853047
LitVar	rs137853047
Map	rs137853047
PheGenI	rs137853047
Biobank	rs137853047
1000 genomes	rs137853047
hgdp	rs137853047
ensembl	rs137853047
geneview	rs137853047
scholar	rs137853047
google	rs137853047
pharmgkb	rs137853047
gwascentral	rs137853047
openSNP	rs137853047
23andMe	rs137853047
SNPshot	rs137853047
SNPdbe	rs137853047
MSV3d	rs137853047
GWAS Ctlg	rs137853047

Max Magnitude

0

OMIM	602529
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137853047(T;T)
Alt	rs137853047(T;T)
Reference	Rs137853047(C;C)
Significance	Pathogenic
Disease	Lissencephaly 3
Variation	info
Gene	TUBA1A
CLNDBN	Lissencephaly 3
Reversed	1
HGVS	NC_000012.11:g.49578893G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007490.2,