rs137853045

Orientation

minus

Stabilized

minus

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

Make rs137853045(A;C)

Make rs137853045(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49185804

Gene

TUBA1A

is a	snp
is	mentioned by
dbSNP	rs137853045
dbSNP (classic)	rs137853045
ClinGen	rs137853045
ebi	rs137853045
HLI	rs137853045
Exac	rs137853045
Gnomad	rs137853045
Varsome	rs137853045
LitVar	rs137853045
Map	rs137853045
PheGenI	rs137853045
Biobank	rs137853045
1000 genomes	rs137853045
hgdp	rs137853045
ensembl	rs137853045
geneview	rs137853045
scholar	rs137853045
google	rs137853045
pharmgkb	rs137853045
gwascentral	rs137853045
openSNP	rs137853045
23andMe	rs137853045
SNPshot	rs137853045
SNPdbe	rs137853045
MSV3d	rs137853045
GWAS Ctlg	rs137853045

Max Magnitude

0

OMIM	602529
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137853045(C;C)
Alt	rs137853045(C;C)
Reference	Rs137853045(A;A)
Significance	Pathogenic
Disease	Lissencephaly 3
Variation	info
Gene	TUBA1A
CLNDBN	Lissencephaly 3
Reversed	1
HGVS	NC_000012.11:g.49579587T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007488.2,