FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: Tonometry ×
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: rs3743860
rs3743860 		16 89752083 intron variant T/C snv 0.47
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 3 2018 2018