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rs1057520771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520771(A;A)
Make rs1057520771(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position46755714
GeneFKRP
is asnp
is mentioned by
dbSNPrs1057520771
dbSNP (classic)rs1057520771
ClinGenrs1057520771
ebirs1057520771
HLIrs1057520771
Exacrs1057520771
Gnomadrs1057520771
Varsomers1057520771
LitVarrs1057520771
Maprs1057520771
PheGenIrs1057520771
Biobankrs1057520771
1000 genomesrs1057520771
hgdprs1057520771
ensemblrs1057520771
geneviewrs1057520771
scholarrs1057520771
googlers1057520771
pharmgkbrs1057520771
gwascentralrs1057520771
openSNPrs1057520771
23andMers1057520771
SNPshotrs1057520771
SNPdbers1057520771
MSV3drs1057520771
GWAS Ctlgrs1057520771
Max Magnitude0
ClinVar
Risk rs1057520771(A;A)
Alt rs1057520771(A;A)
Reference Rs1057520771(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene FKRP
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.47258971C>A
CLNSRC
CLNACC RCV000419914.1,