Source: UNIPROT

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: rs1555344723
rs1555344723
THTPA ; ZFHX2
1.000 14 23524204 missense variant C/T snv
CUI: C4538468
Disease: MARSILI SYNDROME
MARSILI SYNDROME 		0.700 1.000 1 2018 2018