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rs730880299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880299(A;T)
Make rs730880299(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position24290987
GeneDCDC2
is asnp
is mentioned by
dbSNPrs730880299
dbSNP (classic)rs730880299
ClinGenrs730880299
ebirs730880299
HLIrs730880299
Exacrs730880299
Gnomadrs730880299
Varsomers730880299
LitVarrs730880299
Maprs730880299
PheGenIrs730880299
Biobankrs730880299
1000 genomesrs730880299
hgdprs730880299
ensemblrs730880299
geneviewrs730880299
scholarrs730880299
googlers730880299
pharmgkbrs730880299
gwascentralrs730880299
openSNPrs730880299
23andMers730880299
SNPshotrs730880299
SNPdbers730880299
MSV3drs730880299
GWAS Ctlgrs730880299
Max Magnitude0
ClinVar
Risk rs730880299(T;T)
Alt rs730880299(T;T)
Reference Rs730880299(A;A)
Significance Pathogenic
Disease Nephronophthisis 19 Sclerosing cholangitis
Variation info
Gene DCDC2
CLNDBN Nephronophthisis 19 Sclerosing cholangitis, neonatal
Reversed 1
HGVS NC_000006.11:g.24291215T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157642.4, RCV000477678.1,