CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
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: rs1404699
rs1404699
1.000 0.040 7 147343214 intron variant G/A snv 0.64
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2107856
rs2107856
1.000 0.040 7 147491593 intron variant G/A;T snv
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs7803992
rs7803992
1.000 0.040 7 147343905 intron variant A/G;T snv
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 1.000 1 2012 2012