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rs1057519306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519306(A;A)
Make rs1057519306(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position41819594
GeneMAPKBP1
is asnp
is mentioned by
dbSNPrs1057519306
dbSNP (old)rs1057519306
ClinGenrs1057519306
ebirs1057519306
HLIrs1057519306
Exacrs1057519306
Gnomadrs1057519306
Varsomers1057519306
Maprs1057519306
PheGenIrs1057519306
Biobankrs1057519306
1000 genomesrs1057519306
hgdprs1057519306
ensemblrs1057519306
gopubmedrs1057519306
geneviewrs1057519306
scholarrs1057519306
googlers1057519306
pharmgkbrs1057519306
gwascentralrs1057519306
openSNPrs1057519306
23andMers1057519306
23andMe allrs1057519306
SNPshotrs1057519306
SNPdbers1057519306
MSV3drs1057519306
GWAS Ctlgrs1057519306
Max Magnitude0
ClinVar
Risk rs1057519306(A;A)
Alt rs1057519306(A;A)
Reference Rs1057519306(G;G)
Significance Pathogenic
Disease Nephronophthisis 20
Variation info
Gene MAPKBP1
CLNDBN Nephronophthisis 20
Reversed 0
HGVS NC_000015.9:g.42111792G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415552.2,