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rs749740335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs749740335(-;-)
Make rs749740335(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position179552620
GeneAXDND1, NPHS2
is asnp
is mentioned by
dbSNPrs749740335
dbSNP (classic)rs749740335
ClinGenrs749740335
ebirs749740335
HLIrs749740335
Exacrs749740335
Gnomadrs749740335
Varsomers749740335
LitVarrs749740335
Maprs749740335
PheGenIrs749740335
Biobankrs749740335
1000 genomesrs749740335
hgdprs749740335
ensemblrs749740335
geneviewrs749740335
scholarrs749740335
googlers749740335
pharmgkbrs749740335
gwascentralrs749740335
openSNPrs749740335
23andMers749740335
SNPshotrs749740335
SNPdbers749740335
MSV3drs749740335
GWAS Ctlgrs749740335
Max Magnitude0
ClinVar
Risk rs749740335(-;-)
Alt rs749740335(-;-)
Reference Rs749740335(TT;TT)
Significance Probable-Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2 AXDND1
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 0
HGVS NC_000001.10:g.179521755_179521756delTT
CLNSRC Counsyl
CLNACC RCV000169166.1,