CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: AUTISM, SUSCEPTIBILITY TO, 15 ×
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: rs121908445
rs121908445 		0.925 0.040 7 148147542 missense variant T/C snv 3.3E-04 1.7E-04
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		0.700 0
dbSNP: rs2710102
rs2710102 		0.790 0.120 7 147877298 intron variant A/G;T snv
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		0.700 0
dbSNP: rs7794745
rs7794745 		0.851 0.040 7 146792514 intron variant A/T snv 0.49
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		0.700 0