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

rs483352906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483352906(A;G)
Make rs483352906(G;G)
ReferenceGRCh38 38.1/142
Chromosome4
Position169577081
GeneNEK1
is asnp
is mentioned by
dbSNPrs483352906
ebirs483352906
HLIrs483352906
Exacrs483352906
Varsomers483352906
Maprs483352906
PheGenIrs483352906
hapmaprs483352906
1000 genomesrs483352906
hgdprs483352906
ensemblrs483352906
gopubmedrs483352906
geneviewrs483352906
scholarrs483352906
googlers483352906
pharmgkbrs483352906
gwascentralrs483352906
openSNPrs483352906
23andMers483352906
23andMe allrs483352906
SNP Nexus

SNPshotrs483352906
SNPdbers483352906
MSV3drs483352906
GWAS Ctlgrs483352906
Max Magnitude0
ClinVar
Risk rs483352906(G;G)
Alt rs483352906(G;G)
Reference rs483352906(A;A)
Significance Pathogenic
Disease Short rib-polydactyly syndrome
Variation info
Gene NEK1
CLNDBN Short rib-polydactyly syndrome, Majewski type
Reversed 1
HGVS NC_000004.11:g.170498232T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023382.3,