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rs200585917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200585917(A;A)
Make rs200585917(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position49636414
GeneZNF423
is asnp
is mentioned by
dbSNPrs200585917
dbSNP (classic)rs200585917
ClinGenrs200585917
ebirs200585917
HLIrs200585917
Exacrs200585917
Gnomadrs200585917
Varsomers200585917
LitVarrs200585917
Maprs200585917
PheGenIrs200585917
Biobankrs200585917
1000 genomesrs200585917
hgdprs200585917
ensemblrs200585917
geneviewrs200585917
scholarrs200585917
googlers200585917
pharmgkbrs200585917
gwascentralrs200585917
openSNPrs200585917
23andMers200585917
SNPshotrs200585917
SNPdbers200585917
MSV3drs200585917
GWAS Ctlgrs200585917
Max Magnitude0
ClinVar
Risk rs200585917(A;A) rs200585917(T;T)
Alt rs200585917(A;A) rs200585917(T;T)
Reference Rs200585917(G;G)
Significance Pathogenic
Disease Nephronophthisis 14
Variation info
Gene ZNF423
CLNDBN Nephronophthisis 14
Reversed 0
HGVS NC_000016.9:g.49670325G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030826.3,