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rs137853042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a congenital nephrotic syndrome mutation
Make rs137853042(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35831358
GeneNPHS1
is asnp
is mentioned by
dbSNPrs137853042
dbSNP (classic)rs137853042
ClinGenrs137853042
ebirs137853042
HLIrs137853042
Exacrs137853042
Gnomadrs137853042
Varsomers137853042
LitVarrs137853042
Maprs137853042
PheGenIrs137853042
Biobankrs137853042
1000 genomesrs137853042
hgdprs137853042
ensemblrs137853042
geneviewrs137853042
scholarrs137853042
googlers137853042
pharmgkbrs137853042
gwascentralrs137853042
openSNPrs137853042
23andMers137853042
SNPshotrs137853042
SNPdbers137853042
MSV3drs137853042
GWAS Ctlgrs137853042
Max Magnitude3

aka c.3325C>T (p.Arg1109Ter or R1109X)

OMIM602716
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853042(T;T)
Alt rs137853042(T;T)
Reference Rs137853042(C;C)
Significance Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36322260G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007270.2,