rs59151893, KRT17

N. diseases: 3
Disease: Familial (FPAH) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE By direct sequencing of genomic PCR products, we report heterozygous K17 missense mutations in the same conserved protein motif in a further five PC-2 families (K17 N92S in one familial and three sporadic cases; K17 Y98D in one familial case) confirming that mutations in this gene are a common cause of PC-2. 9008238 1997