Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057515580
rs1057515580
KLHL24
C 0.700 CausalMutation CLINVAR Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14 individuals with a distinct skin-fragility phenotype and skin cleavage within basal keratinocytes. 27889062

2016
dbSNP: rs886037956
rs886037956
KLHL24
G 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016
dbSNP: rs886037957
rs886037957
KLHL24
A 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016
dbSNP: rs886037957
rs886037957
KLHL24
T 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016
dbSNP: rs137854889
rs137854889
ZMPSTE24
GT 0.700 CausalMutation CLINVAR

dbSNP: rs72645347
rs72645347
COL1A1
A 0.700 GeneticVariation CLINVAR