MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
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: rs138094162
rs138094162
8 6632047 intron variant T/C;G snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
0.700 1.000 1 2015 2015
dbSNP: rs185206099
rs185206099
8 6619777 non coding transcript exon variant G/C snv 2.0E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
0.700 1.000 1 2015 2015
dbSNP: rs186046079
rs186046079
8 6611193 intron variant C/T snv 8.2E-04
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
0.700 1.000 1 2015 2015