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rs606231353

From SNPedia

Orientationminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs606231353(GG;T)
Make rs606231353(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position13544078
GeneNKX3-2
is asnp
is mentioned by
dbSNPrs606231353
ebirs606231353
HLIrs606231353
Exacrs606231353
Varsomers606231353
Maprs606231353
PheGenIrs606231353
hapmaprs606231353
1000 genomesrs606231353
hgdprs606231353
ensemblrs606231353
gopubmedrs606231353
geneviewrs606231353
scholarrs606231353
googlers606231353
pharmgkbrs606231353
gwascentralrs606231353
openSNPrs606231353
23andMers606231353
23andMe allrs606231353
SNP Nexus

SNPshotrs606231353
SNPdbers606231353
MSV3drs606231353
GWAS Ctlgrs606231353
Max Magnitude0
ClinVar
Risk rs606231353(T;T)
Alt rs606231353(T;T)
Reference rs606231353(GG;GG)
Significance Pathogenic
Disease Spondylo-megaepiphyseal-metaphyseal dysplasia
Variation info
Gene NKX3-2
CLNDBN Spondylo-megaepiphyseal-metaphyseal dysplasia
Reversed 1
HGVS NC_000004.11:g.13545702_13545703delCCinsA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007921.3,