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rs713993044

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs713993044(C;T)
Make rs713993044(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43661285
GeneMEOX1
is asnp
is mentioned by
dbSNPrs713993044
ebirs713993044
HLIrs713993044
Exacrs713993044
Varsomers713993044
Maprs713993044
PheGenIrs713993044
hapmaprs713993044
1000 genomesrs713993044
hgdprs713993044
ensemblrs713993044
gopubmedrs713993044
geneviewrs713993044
scholarrs713993044
googlers713993044
pharmgkbrs713993044
gwascentralrs713993044
openSNPrs713993044
23andMers713993044
23andMe allrs713993044
SNP Nexus

SNPshotrs713993044
SNPdbers713993044
MSV3drs713993044
GWAS Ctlgrs713993044
Max Magnitude0
ClinVar
Risk rs713993044(T;T)
Alt rs713993044(T;T)
Reference rs713993044(C;C)
Significance Pathogenic
Disease Klippel-Feil syndrome 2
Variation info
Gene MEOX1
CLNDBN Klippel-Feil syndrome 2, autosomal recessive
Reversed 1
HGVS NC_000017.10:g.41738653G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149546.3,