rs137853048

Orientation

minus

Stabilized

minus

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

Make rs137853048(C;C)

Make rs137853048(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49185176

Gene

TUBA1A

is a	snp
is	mentioned by
dbSNP	rs137853048
dbSNP (classic)	rs137853048
ClinGen	rs137853048
ebi	rs137853048
HLI	rs137853048
Exac	rs137853048
Gnomad	rs137853048
Varsome	rs137853048
LitVar	rs137853048
Map	rs137853048
PheGenI	rs137853048
Biobank	rs137853048
1000 genomes	rs137853048
hgdp	rs137853048
ensembl	rs137853048
geneview	rs137853048
scholar	rs137853048
google	rs137853048
pharmgkb	rs137853048
gwascentral	rs137853048
openSNP	rs137853048
23andMe	rs137853048
SNPshot	rs137853048
SNPdbe	rs137853048
MSV3d	rs137853048
GWAS Ctlg	rs137853048

Max Magnitude

0

OMIM	602529
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137853048(C;C)
Alt	rs137853048(C;C)
Reference	Rs137853048(T;T)
Significance	Pathogenic
Disease	Lissencephaly 3
Variation	info
Gene	TUBA1A
CLNDBN	Lissencephaly 3
Reversed	1
HGVS	NC_000012.11:g.49578959A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007491.2,