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rs202001274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202001274(C;T)
Make rs202001274(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position41815388
GeneMAPKBP1
is asnp
is mentioned by
dbSNPrs202001274
dbSNP (old)rs202001274
ClinGenrs202001274
ebirs202001274
HLIrs202001274
Exacrs202001274
Gnomadrs202001274
Varsomers202001274
LitVarrs202001274
Maprs202001274
PheGenIrs202001274
Biobankrs202001274
1000 genomesrs202001274
hgdprs202001274
ensemblrs202001274
gopubmedrs202001274
geneviewrs202001274
scholarrs202001274
googlers202001274
pharmgkbrs202001274
gwascentralrs202001274
openSNPrs202001274
23andMers202001274
23andMe allrs202001274
SNPshotrs202001274
SNPdbers202001274
MSV3drs202001274
GWAS Ctlgrs202001274
Max Magnitude0
ClinVar
Risk rs202001274(T;T)
Alt rs202001274(T;T)
Reference Rs202001274(C;C)
Significance Pathogenic
Disease Nephronophthisis 20
Variation info
Gene MAPKBP1
CLNDBN Nephronophthisis 20
Reversed 0
HGVS NC_000015.9:g.42107586C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415593.2,