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rs1057519304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519304(C;T)
Make rs1057519304(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position41825284
GeneMAPKBP1
is asnp
is mentioned by
dbSNPrs1057519304
dbSNP (old)rs1057519304
ClinGenrs1057519304
ebirs1057519304
HLIrs1057519304
Exacrs1057519304
Gnomadrs1057519304
Varsomers1057519304
Maprs1057519304
PheGenIrs1057519304
Biobankrs1057519304
1000 genomesrs1057519304
hgdprs1057519304
ensemblrs1057519304
gopubmedrs1057519304
geneviewrs1057519304
scholarrs1057519304
googlers1057519304
pharmgkbrs1057519304
gwascentralrs1057519304
openSNPrs1057519304
23andMers1057519304
23andMe allrs1057519304
SNPshotrs1057519304
SNPdbers1057519304
MSV3drs1057519304
GWAS Ctlgrs1057519304
Max Magnitude0
ClinVar
Risk rs1057519304(T;T)
Alt rs1057519304(T;T)
Reference Rs1057519304(C;C)
Significance Pathogenic
Disease Nephronophthisis 20
Variation info
Gene MAPKBP1
CLNDBN Nephronophthisis 20
Reversed 0
HGVS NC_000015.9:g.42117482C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415560.2,