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rs387906587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906587(A;A)
Make rs387906587(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position128835550
GeneFLNC
is asnp
is mentioned by
dbSNPrs387906587
dbSNP (classic)rs387906587
ClinGenrs387906587
ebirs387906587
HLIrs387906587
Exacrs387906587
Gnomadrs387906587
Varsomers387906587
LitVarrs387906587
Maprs387906587
PheGenIrs387906587
Biobankrs387906587
1000 genomesrs387906587
hgdprs387906587
ensemblrs387906587
geneviewrs387906587
scholarrs387906587
googlers387906587
pharmgkbrs387906587
gwascentralrs387906587
openSNPrs387906587
23andMers387906587
SNPshotrs387906587
SNPdbers387906587
MSV3drs387906587
GWAS Ctlgrs387906587
Max Magnitude0
ClinVar
Risk rs387906587(A;A)
Alt rs387906587(A;A)
Reference Rs387906587(G;G)
Significance Pathogenic
Disease Myopathy not provided
Variation info
Gene FLNC
CLNDBN Myopathy, distal, 4 not provided
Reversed 0
HGVS NC_000007.13:g.128475604G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022429.28, RCV000442836.1,