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rs137852684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852684(G;T)
Make rs137852684(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position173233189
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs137852684
ebirs137852684
HLIrs137852684
Exacrs137852684
Varsomers137852684
Maprs137852684
PheGenIrs137852684
hapmaprs137852684
1000 genomesrs137852684
hgdprs137852684
ensemblrs137852684
gopubmedrs137852684
geneviewrs137852684
scholarrs137852684
googlers137852684
pharmgkbrs137852684
gwascentralrs137852684
openSNPrs137852684
23andMers137852684
23andMe allrs137852684
SNP Nexus

SNPshotrs137852684
SNPdbers137852684
MSV3drs137852684
GWAS Ctlgrs137852684
Max Magnitude0
OMIM600584
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852684(T;T)
Alt rs137852684(T;T)
Reference rs137852684(G;G)
Significance Pathogenic
Disease Hypothyroidism not specified Atrial septal defect 7 with or without atrioventricular conduction defects
Variation info
Gene NKX2-5
CLNDBN Hypothyroidism, congenital, nongoitrous, 5 not specified Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 1
HGVS NC_000005.9:g.172660192C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009584.3, RCV000171007.3, RCV000230156.1,