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: rs10824518
rs10824518
KCNMA1
3 0.882 0.040 10 77303784 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2070664
rs2070664
ACTC1 ; LOC101928174
1 1.000 0.040 15 34793000 intron variant C/T snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs670957
rs670957
ACTC1 ; LOC101928174
2 0.925 0.080 15 34797231 intron variant G/A snv 0.45 0.010 1.000 1 2015 2015