Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398122966
rs398122966
TBC1D24
0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.700 1.000 2 2014 2014