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rs878855325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCTGCCCCGAAG;TCTGCCCCGAAG) 0 common in clinvar
Make rs878855325(CCGCCTCCT;CCGCCTCCT)
Make rs878855325(CCGCCTCCT;TCTGCCCCGAAG)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position20349012
GeneUMOD
is asnp
is mentioned by
dbSNPrs878855325
dbSNP (old)rs878855325
ClinGenrs878855325
ebirs878855325
HLIrs878855325
Exacrs878855325
Gnomadrs878855325
Varsomers878855325
Maprs878855325
PheGenIrs878855325
Biobankrs878855325
1000 genomesrs878855325
hgdprs878855325
ensemblrs878855325
gopubmedrs878855325
geneviewrs878855325
scholarrs878855325
googlers878855325
pharmgkbrs878855325
gwascentralrs878855325
openSNPrs878855325
23andMers878855325
23andMe allrs878855325
SNP Nexus

SNPshotrs878855325
SNPdbers878855325
MSV3drs878855325
GWAS Ctlgrs878855325
Max Magnitude0
ClinVar
Risk rs878855325(CCGCCTCCT;CCGCCTCCT)
Alt rs878855325(CCGCCTCCT;CCGCCTCCT)
Reference Rs878855325(TCTGCCCCGAAG;TCTGCCCCGAAG)
Significance Pathogenic
Disease Medullary cystic kidney disease 2
Variation info
Gene UMOD
CLNDBN Medullary cystic kidney disease 2
Reversed 1
HGVS NC_000016.9:g.20360334_20360345delCTTCGGGGCAGAinsAGGAGGCGG
CLNSRC
CLNACC RCV000234799.1,