rs387906911

Orientation

minus

Stabilized

minus

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

Make rs387906911(A;A)

Make rs387906911(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219218505

Gene

ABCB6

is a	snp
is	mentioned by
dbSNP	rs387906911
dbSNP (classic)	rs387906911
ClinGen	rs387906911
ebi	rs387906911
HLI	rs387906911
Exac	rs387906911
Gnomad	rs387906911
Varsome	rs387906911
LitVar	rs387906911
Map	rs387906911
PheGenI	rs387906911
Biobank	rs387906911
1000 genomes	rs387906911
hgdp	rs387906911
ensembl	rs387906911
geneview	rs387906911
scholar	rs387906911
google	rs387906911
pharmgkb	rs387906911
gwascentral	rs387906911
openSNP	rs387906911
23andMe	rs387906911
SNPshot	rs387906911
SNPdbe	rs387906911
MSV3d	rs387906911
GWAS Ctlg	rs387906911

Max Magnitude

0

ClinVar
Risk	rs387906911(A;A)
Alt	rs387906911(A;A)
Reference	Rs387906911(G;G)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	ABCB6
CLNDBN	Microphthalmia, isolated, with coloboma 7
Reversed	1
HGVS	NC_000002.11:g.220083227C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023440.2,