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rs398123555

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123555(-;-)
Make rs398123555(-;A)
Make rs398123555(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position105620056
GeneFKTN
is asnp
is mentioned by
dbSNPrs398123555
ebirs398123555
HLIrs398123555
Exacrs398123555
Varsomers398123555
Maprs398123555
PheGenIrs398123555
hapmaprs398123555
1000 genomesrs398123555
hgdprs398123555
ensemblrs398123555
gopubmedrs398123555
geneviewrs398123555
scholarrs398123555
googlers398123555
pharmgkbrs398123555
gwascentralrs398123555
openSNPrs398123555
23andMers398123555
23andMe allrs398123555
SNP Nexus

SNPshotrs398123555
SNPdbers398123555
MSV3drs398123555
GWAS Ctlgrs398123555
Max Magnitude0
ClinVar
Risk rs398123555(A;A)
Alt rs398123555(A;A)
Reference rs398123555(;)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Limb-girdle muscular dystrophy-dystroglycanopathy not provided
Variation info
Gene FKTN
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 not provided
Reversed 0
HGVS NC_000009.11:g.108382337dupA
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003356.3, RCV000003357.3, RCV000079427.4,