| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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0.740 | GeneticVariation | BEFREE | Cohort comprised mutation-positive (N = 13; age 17-76 years) and mutation-negative (N = 13; 16-77 years) subjects from two Finnish families with autosomal dominant WNT1 osteoporosis due to a heterozygous missense mutation c.652T>G (p.C218G) in WNT1. | 31299386 | 2019 | |||||||
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0.740 | GeneticVariation | BEFREE | Altogether, 12 mutation-positive (MP) subjects (median age, 39 years; range, 11 to 76 years) and 12 mutation-negative (MN) subjects (35 years; range, 9 to 59 years) from two Finnish families with WNT1 osteoporosis due to the heterozygous p.C218G WNT1 mutation. | 29506076 | 2018 | |||||||
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0.740 | GeneticVariation | BEFREE | We have identified two large Finnish families with early-onset osteoporosis due to a heterozygous WNT1 mutation c.652T>G, p.C218G. | 28411110 | 2017 | |||||||
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0.740 | GeneticVariation | BEFREE | Here we report clinical findings of the WNT1 osteoporosis in 8 children and young adults (median age 14 years; range 10 to 30 years) in two families, all with the p.C218G mutation in WNT1. | 27005318 | 2016 | |||||||
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0.740 | GeneticVariation | UNIPROT | In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). | 23656646 | 2013 | |||||||
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0.740 | GeneticVariation | UNIPROT | Mutations in WNT1 cause different forms of bone fragility. | 23499309 | 2013 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TC | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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TC | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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TAACA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | To date, all patients with the uncommon c.119C>T mutation have presented with severe OI, rather than OI type V. Thus, this report further strengthens the case for a genotype-phenotype correlation for IFITM5-related OI. | 30039845 | 2018 | |||||||
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0.010 | GeneticVariation | BEFREE | Since 2012, a single recurrent heterozygous mutation in IFITM5 (c.-14C>T) has been shown to underlie OI type V. Although this is the most common OI-causing mutation in IFITM5, a second, less common mutation in IFITM5, c.119C>T (p.Ser40Leu), has been identified, which is not associated with the OI type V phenotype. | 30039845 | 2018 | |||||||
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0.010 | GeneticVariation | BEFREE | We also found a missense variant in WNT1 (S88R) that was overrepresented in the ASD sample (8 A/T in 267 ASD (minor allele frequency (MAF)=1.69%) vs 1 A/T in 377 controls (MAF=0.13%), OR=13.0, Fisher's exact test, P=0.0048; OR=8.2 and P=0.053 after correction for population stratification). | 24002087 | 2013 | |||||||
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0.010 | GeneticVariation | BEFREE | We also found a missense variant in WNT1 (S88R) that was overrepresented in the ASD sample (8 A/T in 267 ASD (minor allele frequency (MAF)=1.69%) vs 1 A/T in 377 controls (MAF=0.13%), OR=13.0, Fisher's exact test, P=0.0048; OR=8.2 and P=0.053 after correction for population stratification). | 24002087 | 2013 |