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: rs3198697
rs3198697
2 16 15036083 missense variant C/A;T snv 4.0E-06; 0.31 0.800 1.000 2 2013 2018
dbSNP: rs11644601
rs11644601
4 16 15078261 intron variant T/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12928099
rs12928099
2 16 15056648 intron variant C/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs7200543
rs7200543
6 16 15036113 synonymous variant A/G snv 0.35 0.30 0.700 1.000 1 2017 2017