Skip to main content
. 2020 Sep 17;20:544. doi: 10.1186/s12884-020-03240-z

Table 5.

Eight rare ANO8 missense variants in the databases

Rs# Chr Position, bp Alleles Protein change SIFT MAF in 151 ICP cases MAF in 1029 controls MAF in ExAC MAF in gnomAD - Genomes MAF in TOPMED P value (cases-controls) P value (cases-ExAC) P value (cases- gnomAD - Genomes) P value (cases-TOPMED)
rs1316267732 19 17,445,461 G/C Gly7Arg 0.002 (D) 0.0033 0 NP 0.00001 NP 0.13 0.0043
rs1 19 17,441,657 G/A Glu325Lys 0.041 (D) 0.0033 0 NP NP NP 0.13
rs2 19 17,440,988 G/C Val407Leu 0.022 (D) 0.0033 0 NP NP NP 0.13
rs3 19 17,439,584 G/T Ser538Ile 0.039 (D) 0.0033 0 NP NP 0.000030 0.13 0.0097
rs760834212 19 17,435,864 C/T Ala998Val 0.004 (D) 0.0033 0 0.000058 0.000064 0.000008 0.13 0.01 0.01 0.0024
rs1391524054 19 17,435,780 G/C Ser1026Thr 0.0 (D) 0.0033 0 NP NP 0.000008 0.13 0.0024
rs4 19 17,434,670 G/T Ala1119Ser 0.008 (D) 0.0033 0 NP 0.00004 0.000072 0.13 0.01 0.012
rs5 19 17,434,537 C/T Ala1163Val 0.005 (D) 0.0033 0 NP NP NP 0.13

See the footnotes in Tables 2 and 3