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Table 3 Screening for mutations in the NR1H4 gene in 197 pregnant women with ICP disease

From: Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients

Exon Patient SNP Chr Position Alleles Protein change SIFT PolyPhen2 MAF in controls 1000G_ALL ExAC ChinaMAP P1 P2 P3
Exon2 ICP127 Novel-1 12 100904880 C/T Ser145Phe 0 (D) 0.999 (D) 0/(1029*2) Not present Not present 0 0.018
Exon3 ICP53 Novel-2 12 100926313 A/T Met185Leu 0.005 (D) 0.981 (D) 0/(1029*2) Not present Not present 0 0.018
Exon4 ICP12 rs180957965 12 100928727 G/T Ala230Ser 0.815 (T) 0.015 (T) 0/(1029*2) 0.00080 0.00018 0.0029 0.17 0.036 0.44
Exon5 ICP1,69,107 rs147030757 12 100930352 C/T Asn275Asn 0/(1029*2) 0.001 0.00022 0.0057 0.0027 1.63e−05 0.11
  1. Significant differences were underlined
  2. P1 the significance of differences in frequencies between 197 ICP patients and 1000G_ALL, P2 the significance of differences in frequencies between 197 ICP patients and ExAC, P3 the significance of differences in frequencies between 197 ICP patients and ChinaMAP