Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853312
rs137853312
FLNA
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		A 0.700 CausalMutation CLINVAR Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 16596676

2006
dbSNP: rs137853312
rs137853312
FLNA
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		A 0.700 CausalMutation CLINVAR Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 16835913

2006
dbSNP: rs137853312
rs137853312
FLNA
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		A 0.700 CausalMutation CLINVAR A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 15523633

2005