Have questions? Visit https://www.reddit.com/r/SNPedia

rs879255599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879255599(A;G)
Make rs879255599(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome18
Position58366201
GeneNEDD4L
is asnp
is mentioned by
dbSNPrs879255599
dbSNP (classic)rs879255599
ClinGenrs879255599
ebirs879255599
HLIrs879255599
Exacrs879255599
Gnomadrs879255599
Varsomers879255599
LitVarrs879255599
Maprs879255599
PheGenIrs879255599
Biobankrs879255599
1000 genomesrs879255599
hgdprs879255599
ensemblrs879255599
geneviewrs879255599
scholarrs879255599
googlers879255599
pharmgkbrs879255599
gwascentralrs879255599
openSNPrs879255599
23andMers879255599
SNPshotrs879255599
SNPdbers879255599
MSV3drs879255599
GWAS Ctlgrs879255599
Max Magnitude0
ClinVar
Risk rs879255599(G;G)
Alt rs879255599(G;G)
Reference Rs879255599(A;A)
Significance Pathogenic
Disease Periventricular nodular heterotopia with syndactyly Periventricular nodular heterotopia 7
Variation info
Gene NEDD4L
CLNDBN Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay Periventricular nodular heterotopia 7
Reversed 0
HGVS NC_000018.9:g.56033433A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000239744.1, RCV000258910.1,