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rs1054950770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35851260
GeneKIRREL2, NPHS1
is asnp
is mentioned by
dbSNPrs1054950770
dbSNP (classic)rs1054950770
ClinGenrs1054950770
ebirs1054950770
HLIrs1054950770
Exacrs1054950770
Gnomadrs1054950770
Varsomers1054950770
LitVarrs1054950770
Maprs1054950770
PheGenIrs1054950770
Biobankrs1054950770
1000 genomesrs1054950770
hgdprs1054950770
ensemblrs1054950770
geneviewrs1054950770
scholarrs1054950770
googlers1054950770
pharmgkbrs1054950770
gwascentralrs1054950770
openSNPrs1054950770
23andMers1054950770
SNPshotrs1054950770
SNPdbers1054950770
MSV3drs1054950770
GWAS Ctlgrs1054950770
Max Magnitude0
ClinVar
Risk rs1054950770(G;G)
Alt rs1054950770(G;G)
Reference Rs1054950770(A;A)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene
CLNDBN Finnish congenital nephrotic syndrome
Reversed 0
HGVS NC_000019.9:g.36342162A>G
CLNSRC
CLNACC RCV000410346.1,