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rs387906911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906911(A;A)
Make rs387906911(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219218505
GeneABCB6
is asnp
is mentioned by
dbSNPrs387906911
ebirs387906911
HLIrs387906911
Exacrs387906911
Varsomers387906911
Maprs387906911
PheGenIrs387906911
hapmaprs387906911
1000 genomesrs387906911
hgdprs387906911
ensemblrs387906911
gopubmedrs387906911
geneviewrs387906911
scholarrs387906911
googlers387906911
pharmgkbrs387906911
gwascentralrs387906911
openSNPrs387906911
23andMers387906911
23andMe allrs387906911
SNP Nexus

SNPshotrs387906911
SNPdbers387906911
MSV3drs387906911
GWAS Ctlgrs387906911
Max Magnitude0
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
CLNACC RCV000023440.2,