SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894478
rs104894478
0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0