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rs61753238(G;G)

From SNPedia

Rhizomelic Chondrodysplasia Punctata Type I disorder
Is agenotype
ofrs61753238
GenePEX7
Chromosome6
Position136,822,785
mentionedby
Magnitude7
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of one Rhizomelic Chondrodysplasia Punctata Type I disorder allele
(G;G) 7 Rhizomelic Chondrodysplasia Punctata Type I disorder

Being homozygous for the rare rs61753238(G) variant is reported to lead to Rhizomelic Chondrodysplasia Punctata Type I.