CA2, carbonic anhydrase 2, 760

N. diseases: 210; 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: rs118203931
rs118203931
8 85465289 missense variant A/C;G snv 4.6E-04; 4.0E-06
CUI: C4017251
Disease: CARBONIC ANHYDRASE II VARIANT
CARBONIC ANHYDRASE II VARIANT
0.700 0
dbSNP: rs118203932
rs118203932
8 85480713 missense variant C/A;G snv 8.0E-06
CUI: C4017251
Disease: CARBONIC ANHYDRASE II VARIANT
CARBONIC ANHYDRASE II VARIANT
0.700 0