rs137853046

Orientation

minus

Stabilized

minus

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

Make rs137853046(A;A)

Make rs137853046(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49185579

Gene

TUBA1A

is a	snp
is	mentioned by
dbSNP	rs137853046
dbSNP (classic)	rs137853046
ClinGen	rs137853046
ebi	rs137853046
HLI	rs137853046
Exac	rs137853046
Gnomad	rs137853046
Varsome	rs137853046
LitVar	rs137853046
Map	rs137853046
PheGenI	rs137853046
Biobank	rs137853046
1000 genomes	rs137853046
hgdp	rs137853046
ensembl	rs137853046
geneview	rs137853046
scholar	rs137853046
google	rs137853046
pharmgkb	rs137853046
gwascentral	rs137853046
openSNP	rs137853046
23andMe	rs137853046
SNPshot	rs137853046
SNPdbe	rs137853046
MSV3d	rs137853046
GWAS Ctlg	rs137853046

Max Magnitude

0

OMIM	602529
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137853046(A;A)
Alt	rs137853046(A;A)
Reference	Rs137853046(C;C)
Significance	Pathogenic
Disease	Lissencephaly 3
Variation	info
Gene	TUBA1A
CLNDBN	Lissencephaly 3
Reversed	1
HGVS	NC_000012.11:g.49579362G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007489.2,