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. 2022 Mar 10;10:831284. doi: 10.3389/fped.2022.831284

Table 2.

SNPs and indels analysis of SCNN1B and WNK1 in the neonate.

Gene name Chromosome position RS number Ref Allele SNP allele Functional consequence Allele frequency Global MAF Clinical significance
SCNN1B 16:23388504 - TA T - 0.5 - -
SCNN1B 16:23388650 - TGACACCCAGTACAA T - 0.5 - -
SCNN1B 16:23360199 rs238547 T C Synonymous codon 1 T:0.2115 Benign
WNK1 12:1017197 rs4766334 C T Synonymous codon 1 C:0.0130 Benign
WNK1 12:862989 rs3168640 T C Synonymous codon 1 T:0.0244 Benign
WNK1 12:987482 rs1012729 G A Synonymous codon 1 G:0.3205 Benign
WNK1 12:990912 rs956868 A C Missense 1 A:0.1472 Benign
WNK1 12:993930 rs7300444 C T Synonymous codon 1 T:0.3990 Benign
WNK1 12:994487 rs7955371 G C Synonymous codon 1 G:5008:0.0132 Benign
WNK1 12:862641 rs3088353 T G 5'utr variant 0.5 G:5008:0.3399 Benign
WNK1 12:939302 rs10774466 A G Synonymous codon 1 A:5008:0.3065 Benign