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rs137852685

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852685(C;C)
Make rs137852685(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position173233062
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs137852685
ebirs137852685
HLIrs137852685
Exacrs137852685
Varsomers137852685
Maprs137852685
PheGenIrs137852685
hapmaprs137852685
1000 genomesrs137852685
hgdprs137852685
ensemblrs137852685
gopubmedrs137852685
geneviewrs137852685
scholarrs137852685
googlers137852685
pharmgkbrs137852685
gwascentralrs137852685
openSNPrs137852685
23andMers137852685
23andMe allrs137852685
SNP Nexus

SNPshotrs137852685
SNPdbers137852685
MSV3drs137852685
GWAS Ctlgrs137852685
Max Magnitude0
OMIM600584
Desc
Variant0016
Relatedalso
ClinVar
Risk rs137852685(C;C)
Alt rs137852685(C;C)
Reference rs137852685(G;G)
Significance Pathogenic
Disease Hypothyroidism
Variation info
Gene NKX2-5
CLNDBN Hypothyroidism, congenital, nongoitrous, 5
Reversed 1
HGVS NC_000005.9:g.172660065C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009585.5,