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rs137852809

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852809(G;T)
Make rs137852809(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174753595
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852809
ebirs137852809
HLIrs137852809
Exacrs137852809
Varsomers137852809
Maprs137852809
PheGenIrs137852809
hapmaprs137852809
1000 genomesrs137852809
hgdprs137852809
ensemblrs137852809
gopubmedrs137852809
geneviewrs137852809
scholarrs137852809
googlers137852809
pharmgkbrs137852809
gwascentralrs137852809
openSNPrs137852809
23andMers137852809
23andMe allrs137852809
SNP Nexus

SNPshotrs137852809
SNPdbers137852809
MSV3drs137852809
GWAS Ctlgrs137852809
Max Magnitude0
OMIM100690
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852809(A,T;A,T)
Alt rs137852809(A,T;A,T)
Reference rs137852809(G;G)
Significance Pathogenic
Disease Lethal multiple pterygium syndrome
Variation info
Gene CHRNA1
CLNDBN Lethal multiple pterygium syndrome
Reversed 1
HGVS NC_000002.11:g.175618323C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020056.27,