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Table 5 Confirmation of known population variation

From: Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

Gene symbol Chromosome Reference position Reference allele Variant allele Confirmed by sanger sequencing Huvariome alleles dbSNP ID
LMNA 1 154372809 T C Yes T/C dbsnp.83:rs505058
SMYD2 1 212558909 G A Yes G/A dbsnp.86:rs1134647
TTN 2 179163877 G A Yes G/A dbsnp.130:rs72646845
TTN 2 179170739 A G Yes A/G dbsnp.126:rs35833641
TTN 2 179329196 C T Yes C/T dbsnp.116:rs7585334
TTN 2 179337706 C T Yes C/T dbsnp.100:rs2291311
TTN 2 179352280 G A Yes G/A dbsnp.88:rs1552280
HDAC2 6 114372280 C T Yes T/C dbsnp.121:rs13204445
TMEM2 9 73549916 C T Yes C/T dbsnp.72:rs25689
TMEM2 9 73550029 C G Yes G/C dbsnp.107:rs3739783
MYPN 10 69603927 G A No G/A dbsnp.120:rs10997975
LDB3 10 88483707 A T Yes A/T dbsnp.127:rs45567939
TRAF6 11 36473064 T C Yes T/C*  
MYBPC3 11 47326019 G A Yes G/A dbsnp.120:rs11570058
MYBPC3 11 47326617 T C Yes T/C dbsnp.107:rs3729989
MYH6 14 22931651 A G Yes A/G dbsnp.80:rs365990
MYH7 14 22968900 G A No G/A dbsnp.86:rs735712
DICER1 14 94626500 A T Yes A/T dbsnp.52:rs13078
ACTC1 15 32868460 G C Yes G/C dbsnp.116:rs8037241
TPM1 15 61138893 C A Yes C/A dbsnp.86:rs1071646
TCAP1 17 35075837 A C Yes A/C dbsnp.86:rs1053651
DSC2 18 26903040 T C Yes T/C**  
DSG2 18 27365107 G A Yes G/A  
DSG2 18 27376616 G A Yes G/A  
TNNI3 19 60357396 A C Yes A/C dbsnp.116:rs7252610
PARVB 22 42726784 T C Yes T/C dbsnp.86:rs1007863
PARVB 22 42821201 T C Yes T/C dbsnp.92:rs1983609
PARVB 22 42821229 T C Yes T/C dbsnp.86:rs738479
DMD X 31406271 C T Yes C/T dbsnp.89:rs1800280
DMD X 32413115 T C Yes T/C dbsnp.79:rs228406
  1. Genomic nucleotide positions 1-based (Reference Position), nucleotides (Reference and Variant Alleles), and Confirmation by Sanger Sequencing are determined by Meder et al. 2011 [25]. The Variant Alleles in bold are the reference alleles in NCBI build 36. Huvariome Alleles are represented with the NCBI build 36 reference allele first in the pair (e.g. T/C with T from NCBI build 36). The T/C variant labeled with * is not found in the HVC, but in the CEU and GIH population; the T/C variant labeled with ** is not found in the HVC, but in the YRI and JPT population.