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rs387906721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906721(A;A)
Make rs387906721(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position132082456
GeneFRMD7
is asnp
is mentioned by
dbSNPrs387906721
ebirs387906721
HLIrs387906721
Exacrs387906721
Varsomers387906721
Maprs387906721
PheGenIrs387906721
hapmaprs387906721
1000 genomesrs387906721
hgdprs387906721
ensemblrs387906721
gopubmedrs387906721
geneviewrs387906721
scholarrs387906721
googlers387906721
pharmgkbrs387906721
gwascentralrs387906721
openSNPrs387906721
23andMers387906721
23andMe allrs387906721
SNP Nexus

SNPshotrs387906721
SNPdbers387906721
MSV3drs387906721
GWAS Ctlgrs387906721
Max Magnitude0
ClinVar
Risk rs387906721(A;A)
Alt rs387906721(A;A)
Reference rs387906721(G;G)
Significance Pathogenic
Disease Infantile nystagmus
Variation info
Gene FRMD7
CLNDBN Infantile nystagmus, X-linked
Reversed 1
HGVS NC_000023.10:g.131216484C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022869.10,