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rs606231352

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231352(-;-)
Make rs606231352(-;G)
Make rs606231352(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position13544077
GeneNKX3-2
is asnp
is mentioned by
dbSNPrs606231352
ebirs606231352
HLIrs606231352
Exacrs606231352
Varsomers606231352
Maprs606231352
PheGenIrs606231352
hapmaprs606231352
1000 genomesrs606231352
hgdprs606231352
ensemblrs606231352
gopubmedrs606231352
geneviewrs606231352
scholarrs606231352
googlers606231352
pharmgkbrs606231352
gwascentralrs606231352
openSNPrs606231352
23andMers606231352
23andMe allrs606231352
SNP Nexus

SNPshotrs606231352
SNPdbers606231352
MSV3drs606231352
GWAS Ctlgrs606231352
Max Magnitude0
ClinVar
Risk rs606231352(G;G)
Alt rs606231352(G;G)
Reference rs606231352(;)
Significance Pathogenic
Disease Spondylo-megaepiphyseal-metaphyseal dysplasia
Variation info
Gene NKX3-2
CLNDBN Spondylo-megaepiphyseal-metaphyseal dysplasia
Reversed 1
HGVS NC_000004.11:g.13545702dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007920.3,