Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912880
rs121912880
COL2A1
0.020 GeneticVariation BEFREE The pregnant woman we previously reported with SEDC carried the G to A substitution at nucleotide 1510 in exon 23 of COL2A1 gene, which caused a change from glycine to serine at codon 504 (G504S). 19072565

2008
dbSNP: rs121912880
rs121912880
COL2A1
0.020 GeneticVariation BEFREE We previously reported a familial G504S mutation in the type II collagen (COL2A1) gene resulting in SEDC. 17920052

2008