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: rs247345
rs247345
1 12 14764543 non coding transcript exon variant T/C snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs4764124
rs4764124
1 12 14813670 intron variant C/T snv 0.51 0.700 1.000 1 2013 2013