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rs606231354

From SNPedia

Orientationminus
Geno Mag Summary
(CGCCCGG;CGCCCGG) 0 common in clinvar
Make rs606231354(-;-)
Make rs606231354(-;CGCCCGG)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position13544305
GeneNKX3-2
is asnp
is mentioned by
dbSNPrs606231354
ebirs606231354
HLIrs606231354
Exacrs606231354
Varsomers606231354
Maprs606231354
PheGenIrs606231354
hapmaprs606231354
1000 genomesrs606231354
hgdprs606231354
ensemblrs606231354
gopubmedrs606231354
geneviewrs606231354
scholarrs606231354
googlers606231354
pharmgkbrs606231354
gwascentralrs606231354
openSNPrs606231354
23andMers606231354
23andMe allrs606231354
SNP Nexus

SNPshotrs606231354
SNPdbers606231354
MSV3drs606231354
GWAS Ctlgrs606231354
Max Magnitude0
ClinVar
Risk rs606231354(;)
Alt rs606231354(;)
Reference rs606231354(CGCCCGG;CGCCCGG)
Significance Pathogenic
Disease Spondylo-megaepiphyseal-metaphyseal dysplasia
Variation info
Gene NKX3-2
CLNDBN Spondylo-megaepiphyseal-metaphyseal dysplasia
Reversed 1
HGVS NC_000004.11:g.13545929_13545935delCCGGGCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007922.4,