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rs387906910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906910(C;G)
Make rs387906910(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219210036
GeneABCB6, ZFAND2B
is asnp
is mentioned by
dbSNPrs387906910
dbSNP (classic)rs387906910
ClinGenrs387906910
ebirs387906910
HLIrs387906910
Exacrs387906910
Gnomadrs387906910
Varsomers387906910
LitVarrs387906910
Maprs387906910
PheGenIrs387906910
Biobankrs387906910
1000 genomesrs387906910
hgdprs387906910
ensemblrs387906910
geneviewrs387906910
scholarrs387906910
googlers387906910
pharmgkbrs387906910
gwascentralrs387906910
openSNPrs387906910
23andMers387906910
SNPshotrs387906910
SNPdbers387906910
MSV3drs387906910
GWAS Ctlgrs387906910
Max Magnitude0
ClinVar
Risk rs387906910(G;G)
Alt rs387906910(G;G)
Reference Rs387906910(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene ZFAND2B ABCB6
CLNDBN Microphthalmia, isolated, with coloboma 7
Reversed 1
HGVS NC_000002.11:g.220074758G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023439.2,