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rs760040426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs760040426(C;C)
Make rs760040426(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position24302046
GeneDCDC2
is asnp
is mentioned by
dbSNPrs760040426
dbSNP (classic)rs760040426
ClinGenrs760040426
ebirs760040426
HLIrs760040426
Exacrs760040426
Gnomadrs760040426
Varsomers760040426
LitVarrs760040426
Maprs760040426
PheGenIrs760040426
Biobankrs760040426
1000 genomesrs760040426
hgdprs760040426
ensemblrs760040426
geneviewrs760040426
scholarrs760040426
googlers760040426
pharmgkbrs760040426
gwascentralrs760040426
openSNPrs760040426
23andMers760040426
SNPshotrs760040426
SNPdbers760040426
MSV3drs760040426
GWAS Ctlgrs760040426
Max Magnitude0
ClinVar
Risk rs760040426(C;C)
Alt rs760040426(C;C)
Reference Rs760040426(T;T)
Significance Pathogenic
Disease Nephronophthisis 19
Variation info
Gene DCDC2
CLNDBN Nephronophthisis 19
Reversed 0
HGVS NC_000006.11:g.24302274T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000157644.4,