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: rs374993554
rs374993554
TAF6
0.925 7 100113899 missense variant A/G;T snv 3.2E-05
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.800 1.000 2 2015 2015