Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519305(A;A)
Make rs1057519305(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position41816937
GeneMAPKBP1
is asnp
is mentioned by
dbSNPrs1057519305
dbSNP (old)rs1057519305
ClinGenrs1057519305
ebirs1057519305
HLIrs1057519305
Exacrs1057519305
Gnomadrs1057519305
Varsomers1057519305
Maprs1057519305
PheGenIrs1057519305
Biobankrs1057519305
1000 genomesrs1057519305
hgdprs1057519305
ensemblrs1057519305
gopubmedrs1057519305
geneviewrs1057519305
scholarrs1057519305
googlers1057519305
pharmgkbrs1057519305
gwascentralrs1057519305
openSNPrs1057519305
23andMers1057519305
23andMe allrs1057519305
SNPshotrs1057519305
SNPdbers1057519305
MSV3drs1057519305
GWAS Ctlgrs1057519305
Max Magnitude0
ClinVar
Risk rs1057519305(A;A)
Alt rs1057519305(A;A)
Reference Rs1057519305(G;G)
Significance Pathogenic
Disease Nephronophthisis 20
Variation info
Gene MAPKBP1
CLNDBN Nephronophthisis 20
Reversed 0
HGVS NC_000015.9:g.42109135G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415534.2,