Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10842262
rs10842262
SOX5
2 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.700 1.000 1 2011 2011
dbSNP: rs12097821
rs12097821 		2 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2477686
rs2477686
PLCH2
2 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs6080550
rs6080550
LOC100289473
2 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.700 1.000 1 2011 2011