No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
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1 | 4 | 100257649 | T | C | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 4 | 100257901 | G | A | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | - | - | 3'_UTR | rs79502992 | - | A=6/G=8594;A=4/G=4402;A=10/G=12996 | - | - | - | - | het | 3 |
3 | 4 | 100257907 | T | C | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | - | - | 3'_UTR | rs2298753 | 0.11223 | C=796/T=7804;C=133/T=4273;C=929/T=12077 | - | - | - | - | het | 176 |
4 | 4 | 100257907 | T | C | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | - | - | 3'_UTR | rs2298753 | 0.11223 | C=796/T=7804;C=133/T=4273;C=929/T=12077 | - | - | - | - | hom | 11 |
5 | 4 | 100257951 | A | G | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | - | - | -18bp 3'_splice_site | NA | - | - | - | - | - | - | het | 3 |
6 | 4 | 100260783 | G | T | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | c.1054C>A | p.P352T | non-syn | rs35719513 | 0.01158 | T=22/G=8570;T=10/G=4334;T=32/G=12904 | lod=146:502 | - | - | - | het | 8 |
7 | 4 | 100260789 | T | C | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | c.1048A>G | p.I350V | non-syn | rs698 | 0.36233 | C=3319/T=5273;C=659/T=3685;C=3978/T=8958 | lod=146:502 | - | - | Alcoholism, increased risk, association with ? | het | 519 |
8 | 4 | 100260789 | T | C | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | c.1048A>G | p.I350V | non-syn | rs698 | 0.36233 | C=3319/T=5273;C=659/T=3685;C=3978/T=8958 | lod=146:502 | - | - | Alcoholism, increased risk, association with ? | hom | 182 |
9 | 4 | 100263940 | C | A | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | - | - | +12bp 5'_splice_site | rs55982726 | 0.00458 | A=51/C=8549;A=5/C=4401;A=56/C=12950 | - | - | - | - | het | 6 |
10 | 4 | 100263942 | C | T | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | - | - | +10bp 5'_splice_site | rs1789912 | 0.38078 | T=3299/C=5301;T=659/C=3747;T=3958/C=9048 | - | - | - | - | het | 317 |
11 | 4 | 100263942 | C | T | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | - | - | +10bp 5'_splice_site | rs1789912 | 0.38078 | T=3299/C=5301;T=659/C=3747;T=3958/C=9048 | - | - | - | - | hom | 99 |
12 | 4 | 100263965 | C | T | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | c.815G>A | p.R272Q | non-syn | rs1693482 | 0.37103 | T=3304/C=5296;T=660/C=3746;T=3964/C=9042 | lod=54:395 | - | - | Alcohol dehydrogenase gamma variant | hom | 101 |
13 | 4 | 100263965 | C | T | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | c.815G>A | p.R272Q | non-syn | rs1693482 | 0.37103 | T=3304/C=5296;T=660/C=3746;T=3964/C=9042 | lod=54:395 | - | - | Alcohol dehydrogenase gamma variant | het | 290 |
14 | 4 | 100264094 | T | A | ENST00000510055 | ENSG00000248144 | 100257649 | 100274184 | - | ADH1C | -1 | - | c.861A>T | p.Q287H | non-syn | NA | - | - | lod=266:566 | - | - | - | het | 1 |
15 | 4 | 100264094 | T | A | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | c.686A>T | p.K229I | non-syn | NA | - | - | lod=266:566 | - | - | - | het | 1 |
16 | 4 | 100264102 | G | A | ENST00000510055 | ENSG00000248144 | 100257649 | 100274184 | - | ADH1C | -1 | - | c.853C>T | p.Q285* | non-syn | rs6413444 | 0.01913 | A=127/G=8473;A=9/G=4397;A=136/G=12870 | lod=266:566 | - | - | - | het | 30 |
17 | 4 | 100264102 | G | A | ENST00000510055 | ENSG00000248144 | 100257649 | 100274184 | - | ADH1C | -1 | - | c.853C>T | p.Q285* | non-syn | rs6413444 | 0.01913 | A=127/G=8473;A=9/G=4397;A=136/G=12870 | lod=266:566 | - | - | - | hom | 1 |
18 | 4 | 100264102 | G | A | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | c.678C>T | p.N226N | syn | rs6413444 | 0.01913 | A=127/G=8473;A=9/G=4397;A=136/G=12870 | lod=266:566 | - | - | - | het | 30 |
19 | 4 | 100264102 | G | A | ENST00000515683 | ENSG00000248144 | 100257649 | 100274184 | ENSP00000426083 | ADH1C | -1 | - | c.678C>T | p.N226N | syn | rs6413444 | 0.01913 | A=127/G=8473;A=9/G=4397;A=136/G=12870 | lod=266:566 | - | - | - | hom | 1 |
20 | 4 | 100264168 | G | A | ENST00000510055 | ENSG00000248144 | 100257649 | 100274184 | - | ADH1C | -1 | - | c.787C>T | p.R263W | non-syn | rs78113489 | - | A=5/G=8595;A=0/G=4406;A=5/G=13001 | lod=217:544 | - | - | - | het | 2 |