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rs387906720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906720(G;G)
Make rs387906720(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position132084540
GeneFRMD7
is asnp
is mentioned by
dbSNPrs387906720
ebirs387906720
HLIrs387906720
Exacrs387906720
Varsomers387906720
Maprs387906720
PheGenIrs387906720
hapmaprs387906720
1000 genomesrs387906720
hgdprs387906720
ensemblrs387906720
gopubmedrs387906720
geneviewrs387906720
scholarrs387906720
googlers387906720
pharmgkbrs387906720
gwascentralrs387906720
openSNPrs387906720
23andMers387906720
23andMe allrs387906720
SNP Nexus

SNPshotrs387906720
SNPdbers387906720
MSV3drs387906720
GWAS Ctlgrs387906720
Max Magnitude0
ClinVar
Risk rs387906720(G;G)
Alt rs387906720(G;G)
Reference rs387906720(T;T)
Significance Pathogenic
Disease Infantile nystagmus
Variation info
Gene FRMD7
CLNDBN Infantile nystagmus, X-linked
Reversed 1
HGVS NC_000023.10:g.131218568A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022868.3,