CHR BP Allele1 Allele2 RS EUR frq(%) AAM frq(%) ALL frq(%) function AA change AA Pos Polyphen-score Phastcons-score Gerp-score Grantham-score
4 164087913 C T none 0.0118 0.0723 0.0317 utr-5 none . . 0.0 -2.0 .
4 164087687 GGG G none 12.7621 12.8638 12.7951 frameshift none . . 0.0 3.1 .
4 164085483 A AGAC none 0.0121 0.0 0.008 coding none . . 0.0 -9.4 .
4 164050039 A G none 0.0119 0.0 0.0078 utr-3 none . . 0.1 1.1 .
4 164087873 T C none 0.0118 0.0 0.0079 missense ILE/VAL 3 . 1.0 3.6 29.0
4 164087797 A G none 0.0705 0.0241 0.0552 missense VAL/ALA 28 . 0.0 1.7 64.0
4 164087753 A G rs12331663 0.0851 10.064 3.3854 missense SER/PRO 43 . 0.0 0.6 74.0
4 164087614 A G rs35063973 0.0657 0.9174 0.3447 missense LEU/SER 89 . 0.0 0.2 145.0
4 164087577 A G rs35410130 0.0 3.3213 1.1119 coding-synonymous none 101 . 0.0 -6.2 .
4 164087576 T C none 0.0 0.0256 0.0086 missense THR/ALA 102 . 0.0 -0.1 58.0
4 164087570 C G none 0.0129 0.0 0.0086 missense ALA/PRO 104 . 0.0 2.8 27.0
4 164087567 A C none 0.013 0.0 0.0086 missense SER/ALA 105 . 0.0 2.1 99.0
4 164087551 C G rs143292819 0.0131 0.0 0.0086 missense CYS/SER 110 . 0.0 -1.1 112.0
4 164085487 A G none 0.0116 0.0 0.0077 missense LEU/SER 141 . 0.0 3.3 145.0
4 164085483 C A rs145217718 0.0116 0.0681 0.0308 coding-synonymous none 142 . 0.0 -9.4 .
4 164085470 C T rs34283388 0.0116 3.064 1.0457 missense VAL/ILE 147 . 0.0 -9.6 29.0
4 164085425 C T rs4691896 22.9007 22.3786 22.7238 missense VAL/ILE 162 . 0.9 -0.1 29.0
4 164085406 G T rs146760356 0.0116 0.0 0.0077 missense THR/ASN 168 . 1.0 0.5 65.0
4 164085385 C T none 0.0116 0.0 0.0077 missense GLY/ASP 175 . 1.0 4.9 94.0
4 164069528 C G rs143451443 0.0 0.0227 0.0077 missense ARG/PRO 200 . 1.0 5.3 103.0
4 164069499 C G none 0.0 0.0454 0.0154 missense GLU/GLN 210 . 1.0 4.4 29.0
4 164061500 C A none 0.0 0.0227 0.0077 missense LEU/PHE 251 . 1.0 3.2 22.0
4 164054405 G A rs139920620 0.0 0.0227 0.0077 coding-synonymous none 312 . 1.0 3.0 .
4 164054373 G T rs146474502 0.1163 0.0 0.0769 missense ASP/GLU 322 . 1.0 3.0 45.0
4 164054309 A G none 0.0116 0.0 0.0077 missense SER/PRO 344 . 0.9 -1.4 74.0
4 164050445 T C rs142584555 0.0116 0.0227 0.0154 coding-synonymous none 363 . 0.2 -0.1 .
4 164050429 A G rs148428012 0.0233 0.0 0.0154 missense CYS/ARG 369 . 0.0 2.0 180.0
4 164050319 T C none 0.0 0.0227 0.0077 coding-synonymous none 405 . 0.2 1.8 .
4 164050274 A T none 0.0116 0.0 0.0077 coding-synonymous none 420 . 0.8 -5.3 .
4 164050225 A G none 0.0117 0.0228 0.0154 missense CYS/ARG 437 . 0.0 2.6 180.0
4 164050186 T C none 0.6101 0.0968 0.4356 missense SER/GLY 450 . 0.4 -0.6 56.0
4 164050168 C T none 0.0 0.0235 0.008 missense VAL/MET 456 . 0.0 -6.3 21.0
4 164050156 A G none 0.0 0.0694 0.0235 missense SER/PRO 460 . 0.7 2.4 74.0
4 164050099 A G rs140262888 0.0117 0.0 0.0077 missense SER/PRO 479 . 0.0 3.7 74.0
4 164050056 G T rs143001503 0.0943 0.0229 0.07 missense SER/TYR 493 . 1.0 4.0 144.0