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rs757704417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs757704417(-;-)
Make rs757704417(-;AC)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position24357627
GeneDCDC2, KAAG1
is asnp
is mentioned by
dbSNPrs757704417
dbSNP (classic)rs757704417
ClinGenrs757704417
ebirs757704417
HLIrs757704417
Exacrs757704417
Gnomadrs757704417
Varsomers757704417
LitVarrs757704417
Maprs757704417
PheGenIrs757704417
Biobankrs757704417
1000 genomesrs757704417
hgdprs757704417
ensemblrs757704417
geneviewrs757704417
scholarrs757704417
googlers757704417
pharmgkbrs757704417
gwascentralrs757704417
openSNPrs757704417
23andMers757704417
SNPshotrs757704417
SNPdbers757704417
MSV3drs757704417
GWAS Ctlgrs757704417
Max Magnitude0
ClinVar
Risk rs757704417(-;-)
Alt rs757704417(-;-)
Reference Rs757704417(AC;AC)
Significance Pathogenic
Disease Nephronophthisis 19 Sclerosing cholangitis
Variation info
Gene KAAG1 DCDC2
CLNDBN Nephronophthisis 19 Sclerosing cholangitis, neonatal
Reversed 0
HGVS NC_000006.11:g.24357855_24357856delAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000157643.4, RCV000477717.1,