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: rs3847153
rs3847153 		1 0.925 0.080 8 100800928 intergenic variant A/G snv 0.13 0.810 1.000 1 2012 2014
dbSNP: rs246246
rs246246
ADAMTS19
2 0.925 0.080 5 129721066 intron variant G/T snv 0.94 0.710 1.000 1 2009 2013
dbSNP: rs4323056
rs4323056 		1 1.000 0.080 4 155136200 intergenic variant G/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs9999820
rs9999820
NPY2R
1 0.925 0.080 4 155197173 intron variant A/G snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs1057519602
rs1057519602
SGO2
1 1.000 0.080 2 200571796 frameshift variant GA/- delins 0.700 0