Source: ALL

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: rs774517056
rs774517056
FGFR3
1.000 0.200 4 1807128 missense variant C/G;T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs774517056
rs774517056
FGFR3
1.000 0.200 4 1807128 missense variant C/G;T snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.700 0