rs587777512

Orientation

plus

Stabilized

plus

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

Make rs587777512(C;T)

Make rs587777512(T;T)

Reference

GRCh38 38.1/142

Chromosome

4

Position

150583180

Gene	LRBA, MAB21L2

is a	snp
is	mentioned by
dbSNP	rs587777512
dbSNP (classic)	rs587777512
ClinGen	rs587777512
ebi	rs587777512
HLI	rs587777512
Exac	rs587777512
Gnomad	rs587777512
Varsome	rs587777512
LitVar	rs587777512
Map	rs587777512
PheGenI	rs587777512
Biobank	rs587777512
1000 genomes	rs587777512
hgdp	rs587777512
ensembl	rs587777512
geneview	rs587777512
scholar	rs587777512
google	rs587777512
pharmgkb	rs587777512
gwascentral	rs587777512
openSNP	rs587777512
23andMe	rs587777512
SNPshot	rs587777512
SNPdbe	rs587777512
MSV3d	rs587777512
GWAS Ctlg	rs587777512

Max Magnitude

0

ClinVar
Risk	rs587777512(G;G) rs587777512(T;T)
Alt	rs587777512(G;G) rs587777512(T;T)
Reference	Rs587777512(C;C)
Significance	Other
Disease	Microphthalmia/coloboma and skeletal dysplasia syndrome
Variation	info
Gene	MAB21L2 LRBA
CLNDBN	Microphthalmia/coloboma and skeletal dysplasia syndrome
Reversed	0
HGVS	NC_000004.11:g.151504332C>G; NC_000004.11:g.151504332C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000490802.1, RCV000128564.3,