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rs1057519303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519303(C;T)
Make rs1057519303(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position41812609
GeneMAPKBP1
is asnp
is mentioned by
dbSNPrs1057519303
dbSNP (old)rs1057519303
ClinGenrs1057519303
ebirs1057519303
HLIrs1057519303
Exacrs1057519303
Gnomadrs1057519303
Varsomers1057519303
Maprs1057519303
PheGenIrs1057519303
Biobankrs1057519303
1000 genomesrs1057519303
hgdprs1057519303
ensemblrs1057519303
gopubmedrs1057519303
geneviewrs1057519303
scholarrs1057519303
googlers1057519303
pharmgkbrs1057519303
gwascentralrs1057519303
openSNPrs1057519303
23andMers1057519303
23andMe allrs1057519303
SNPshotrs1057519303
SNPdbers1057519303
MSV3drs1057519303
GWAS Ctlgrs1057519303
Max Magnitude0
ClinVar
Risk rs1057519303(T;T)
Alt rs1057519303(T;T)
Reference Rs1057519303(C;C)
Significance Pathogenic
Disease Nephronophthisis 20
Variation info
Gene MAPKBP1
CLNDBN Nephronophthisis 20
Reversed 0
HGVS NC_000015.9:g.42104807C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415517.2,