Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy

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 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	NP	0.00001 NP		0.13	—	0.0043	—
rs1	19	17,441,657	G/A	Glu325Lys	0.041 (D)	0.0033	NP	NP	NP	0.13	—	—	—
rs2	19	17,440,988	G/C	Val407Leu	0.022 (D)	0.0033	NP	NP	NP	0.13	—	—	—
rs3	19	17,439,584	G/T	Ser538Ile	0.039 (D)	0.0033	NP	NP 0.000030		0.13	—	—	0.0097
rs760834212	19	17,435,864	C/T	Ala998Val	0.004 (D)	0.0033	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	NP	NP	0.000008	0.13	—	—	0.0024
rs4	19	17,434,670	G/T	Ala1119Ser	0.008 (D)	0.0033	NP	0.00004	0.000072	0.13	—	0.01	0.012
rs5	19	17,434,537	C/T	Ala1163Val	0.005 (D)	0.0033	NP	NP	NP	0.13	—	—	—

ISSN: 1471-2393