Variant ID | Region | Annotation | Consequence | dbSNP | AC in INDEX_ALL | AF in INDEX_ALL | No. of Homozygotes | AF in INDEX_Controls |
---|---|---|---|---|---|---|---|---|
chr20-31350238-C-T | UTR5 | None | None | rs139762513 | 2 | 0.00571 | 0 | 0.00571 |
chr20-31367948-C-T | exonic | synonymous_SNV | ['c.C27T', 'p.S9S'] | rs6058885 | 26 | 0.07429 | 3 | 0.07429 |
chr20-31368025-G-A | intronic | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr20-31368052-A-C | intronic | None | None | rs562098022 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31368195-C-T | exonic | synonymous_SNV | ['c.C66T', 'p.L22L'] | rs143743194 | 2 | 0.00571 | 0 | 0.00571 |
chr20-31368225-C-T | exonic | synonymous_SNV | ['c.C96T', 'p.S32S'] | rs768199189 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31368298-G-C | intronic | None | None | rs568228701 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31368350-G-A | intronic | None | None | rs181671547 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31368957-T-C | intronic | None | None | rs6058886 | 2 | 0.00571 | 1 | 0.00571 |
chr20-31368960-C-A | intronic | None | None | rs6141814 | 9 | 0.02571 | 4 | 0.02571 |
chr20-31369233-C-T | intronic | None | None | rs560602182 | 2 | 0.00571 | 0 | 0.00571 |
chr20-31369479-G-A | intronic | None | None | rs4911258 | 17 | 0.04857 | 6 | 0.04857 |
chr20-31374259-C-T | intronic | None | None | rs2424913 | 131 | 0.37429 | 40 | 0.37429 |
chr20-31374337-C-T | exonic | synonymous_SNV | ['c.C336T', 'p.S112S'] | rs199763590 | 2 | 0.00571 | 0 | 0.00571 |
chr20-31374520-A-G | intronic | None | None | rs2424914 | 198 | 0.56571 | 75 | 0.56571 |
chr20-31374913-C-G | intronic | None | None | rs376708272 | 2 | 0.00571 | 1 | 0.00571 |
chr20-31374991-G-A | intronic | None | None | rs4911107 | 119 | 0.34000 | 37 | 0.34000 |
chr20-31375311-A-G | intronic | None | None | rs4911108 | 128 | 0.36571 | 51 | 0.36571 |
chr20-31376490-T-C | intronic | None | None | rs4911260 | 37 | 0.10571 | 12 | 0.10571 |
chr20-31379184-C-A | intronic | None | None | rs2889703 | 36 | 0.10286 | 15 | 0.10286 |
chr20-31379329-C-T | intronic | None | None | rs546831719 | 2 | 0.00571 | 0 | 0.00571 |
chr20-31379665-C-T | intronic | None | None | rs910084 | 44 | 0.12571 | 22 | 0.12571 |
chr20-31380309-G-A | intronic | None | None | rs1474738 | 53 | 0.15143 | 16 | 0.15143 |
chr20-31380526-G-A | exonic | nonsynonymous_SNV | ['c.G788A', 'p.G263D'] | rs754921958 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31381229-G-A | intronic | None | None | rs993419 | 70 | 0.20000 | 28 | 0.20000 |
chr20-31381507-T-G | intronic | None | None | rs73112162 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31383299-A-G | exonic | nonsynonymous_SNV | ['c.A923G', 'p.Y308C'] | rs143462810 | 29 | 0.08286 | 1 | 0.08286 |
chr20-31383353-T-G | intronic | None | None | rs910085 | 217 | 0.62000 | 74 | 0.62000 |
chr20-31383530-C-T | intronic | None | None | rs875041 | 155 | 0.44286 | 64 | 0.44286 |
chr20-31384801-C-T | intronic | None | None | rs6058890 | 13 | 0.03714 | 1 | 0.03714 |
chr20-31384880-C-A | intronic | None | None | rs6057648 | 12 | 0.03429 | 1 | 0.03429 |
chr20-31385269-G-T | intronic | None | None | rs992472 | 14 | 0.04000 | 5 | 0.04000 |
chr20-31385814-C-T | intronic | None | None | rs2424921 | 2 | 0.00571 | 1 | 0.00571 |
chr20-31386347-T-C | exonic | synonymous_SNV | ['c.T1284C', 'p.C428C'] | rs6058891 | 254 | 0.72571 | 98 | 0.72571 |
chr20-31386449-T-C | exonic | synonymous_SNV | ['c.T1386C', 'p.Y462Y'] | rs2424922 | 214 | 0.61143 | 86 | 0.61143 |
chr20-31387849-T-C | intronic | None | None | rs660291 | 3 | 0.00857 | 0 | 0.00857 |
chr20-31387954-C-G | intronic | None | None | rs1997797 | 163 | 0.46571 | 59 | 0.46571 |
chr20-31388461-C-T | intronic | None | None | rs6058892 | 33 | 0.09429 | 16 | 0.09429 |
chr20-31388537-A-T | intronic | None | None | rs77179792 | 2 | 0.00571 | 0 | 0.00571 |
chr20-31388636-T-C | intronic | None | None | rs2424928 | 214 | 0.61143 | 78 | 0.61143 |
chr20-31389009-C-T | intronic | None | None | rs2065576 | 129 | 0.36857 | 45 | 0.36857 |
chr20-31389142-G-A | exonic | synonymous_SNV | ['c.G1767A', 'p.K589K'] | rs144497819 | 3 | 0.00857 | 0 | 0.00857 |
chr20-31390533-T-C | intronic | None | None | rs2064350 | 7 | 0.02000 | 3 | 0.02000 |
chr20-31393352-G-A | intronic | None | None | rs4911262 | 51 | 0.14571 | 24 | 0.14571 |
chr20-31395477-G-A | intronic | None | None | rs6119286 | 10 | 0.02857 | 0 | 0.02857 |
chr20-31396152-C-T | UTR3 | None | None | rs6058896 | 3 | 0.00857 | 1 | 0.00857 |
chr20-31396472-A-G | UTR3 | None | None | rs535281176 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31396536-A-G | UTR3 | None | None | rs2424932 | 72 | 0.20571 | 33 | 0.20571 |
chr20-31396566-G-A | UTR3 | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr20-31397059-G-C | UTR3 | None | None | rs563126581 | 2 | 0.00571 | 1 | 0.00571 |
chr20-31350244-C-T | UTR5 | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr20-31384635-T-C | exonic | nonsynonymous_SNV | ['c.T1049C', 'p.F350S'] | rs150736372 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31384894-T-C | intronic | None | None | rs566466566 | 2 | 0.00571 | 0 | 0.00571 |
chr20-31389008-G-C | intronic | None | None | rs553511280 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31369126-C-G | intronic | None | None | rs190353959 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31369280-G-A | intronic | None | None | rs548919805 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31375386-A-G | intronic | None | None | rs6057645 | 2 | 0.00571 | 1 | 0.00571 |
chr20-31376995-C-T | intronic | None | None | rs6119285 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31380201-A-T | intronic | None | None | rs1040555 | 13 | 0.03714 | 5 | 0.03714 |
chr20-31380383-G-A | intronic | None | None | rs368420286 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31380588-T-C | intronic | None | None | rs568923866 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31389202-C-T | exonic | synonymous_SNV | ['c.C1827T', 'p.G609G'] | rs759599570 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31393803-T-C | intronic | None | None | rs4911263 | 11 | 0.03143 | 4 | 0.03143 |
chr20-31394251-C-T | intronic | None | None | rs530070615 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31369136-AC-A | intronic | None | None | rs3835238 | 133 | 0.38000 | 38 | 0.38000 |
chr20-31372542-T-TTCATCA | intronic | None | None | rs372922110 | 22 | 0.06286 | 1 | 0.06286 |
chr20-31384830-CAG-C | intronic | None | None | rs747007197 | 1 | 0.00286 | 0 | 0.00286 |
chr20-31395997-CT-C | UTR3 | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr20-31397019-AT-A | UTR3 | None | None | rs398088406 | 99 | 0.28286 | 40 | 0.28286 |
chr20-31397258-GATTC-G | downstream | None | None | rs138092501 | 2 | 0.00571 | 0 | 0.00571 |
chr20-31387737-CTAGT-C | intronic | None | None | rs11468163 | 4 | 0.01143 | 2 | 0.01143 |
AC-Allele Count; AF-Allele Frequency