Source: ALL
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: rs7572857
rs7572857
CEP68
3 0.925 0.160 2 65069664 missense variant G/A snv 0.16 0.12 0.020 1.000 2 2010 2014
dbSNP: rs2303063
rs2303063
SPINK5
4 0.882 0.160 5 148100464 missense variant G/A snv 0.52 0.44 0.010 1.000 1 2012 2012
dbSNP: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.010 1.000 1 2012 2012
dbSNP: rs2427827
rs2427827
FCER1A
2 1.000 0.120 1 159302021 intron variant T/C snv 0.65 0.010 1.000 1 2014 2014