생성: 2026-06-06 18:04 · Rebeauty Genome Lab · 한국인 특화 분석 + Google DeepMind AI 통합
| 유전자 | 내 변이 | AM 변이 | 병원성 | 평균 점수 |
|---|---|---|---|---|
| RYR1 | 1 | 95,722 | 63,678 | 0.691 |
| HERC2 | 1 | 91,846 | 52,386 | 0.620 |
| AHNAK | 1 | 111,910 | 40,329 | 0.463 |
| FBN1 | 1 | 54,568 | 32,288 | 0.640 |
| MUC5AC | 1 | 107,426 | 29,445 | 0.406 |
| SCN9A | 1 | 37,810 | 22,287 | 0.636 |
| AKAP9 | 1 | 74,233 | 22,224 | 0.413 |
| TCHH | 1 | 36,917 | 17,653 | 0.552 |
| DCHS2 | 1 | 65,289 | 17,127 | 0.376 |
| COL1A1 | 2 | 27,835 | 15,512 | 0.606 |
| rsID | 내 GT | 예측 요약 |
|---|---|---|
| rs1001179 | TT | 조절 영향 예측 (max|effect|=0.297, 4 tracks) |
| rs1014063 | AA | 조절 영향 예측 (max|effect|=0.084, 4 tracks) |
| rs1015352 | TT | 조절 영향 예측 (max|effect|=0.153, 4 tracks) |
| rs1042522 | GG | 조절 영향 예측 (max|effect|=0.189, 4 tracks) |
| rs1042602 | CC | 조절 영향 예측 (max|effect|=0.072, 4 tracks) |
| rs1042713 | AA | 조절 영향 예측 (max|effect|=0.096, 4 tracks) |
| rs1042714 | GG | 조절 영향 예측 (max|effect|=0.099, 4 tracks) |
| rs10488683 | CC | 조절 영향 예측 (max|effect|=0.261, 4 tracks) |
| rs10502861 | TT | 조절 영향 예측 (max|effect|=0.309, 4 tracks) |
| rs1050501 | TT | 조절 영향 예측 (max|effect|=0.179, 4 tracks) |
| rs1052053 | AG | 조절 영향 예측 (max|effect|=4.030, 4 tracks) |
| rs1057343 | CC | 조절 영향 예측 (max|effect|=0.321, 4 tracks) |
| 유전자 | 변이 | rsID | ClinVar 분류 |
|---|---|---|---|
| APOE | R176C | rs7412 | drug response |
| F2 | - | rs1799963 | Pathogenic/Likely pathogenic/Pathogenic, |
| ALAD | K59N | rs1800435 | Benign/Likely benign |
| MTHFR | E429A | rs1801131 | Benign/Likely benign; other |
| F5 | R534Q | rs6025 | drug response |
| TERT | - | rs2736100 | Benign |
| VKORC1 | - | rs9923231 | drug response |
| IL10 | - | rs1800896 | Pathogenic |
| EDAR | V370A | rs3827760 | Benign |
| ALDH2 | E504K | rs671 | drug response |
| FLG | R501* | rs61816761 | Pathogenic/Likely pathogenic |
| MTHFR | A222V | rs1801133 | drug response |
| TP53 | P72R | rs1042522 | Benign |
| SLCO1B1 | V174A | rs4149056 | drug response |
| BCHE | D98G | rs1799807 | Pathogenic/Likely pathogenic |
| IL10 | - | rs1800872 | Benign |
| IL13 | Q144R | rs20541 | Benign; risk factor |
| CYP2B6 | Q172H | rs3745274 | drug response |
| ADRB2 | - | rs1042714 | Benign |
| KCNJ11 | K23E | rs5219 | Benign/Likely benign |
| rsID | Gene | GT | 해석 | 약물 |
|---|---|---|---|---|
| rs1142345 | TPMT | TC | Intermediate (용량 30-70% 감량) | azathioprine, 6-MP |
| rs3918290 | DPYD | GA | DPD 활성 50% 감소 — 5-FU 용량 감량 필수 ⚠️ | 5-fluorouracil, capecitabine |
| rs4149056 | SLCO1B1 | CC | Reduced function — 심바스타틴 권장 안 함 | simvastatin |
| rs4244285 | CYP2C19 | AA | *2/*2 — 활성화 안 됨 (poor metabolizer, 위험) | clopidogrel |
| rs429358 | APOE | TT | ε2 또는 ε3 (낮은 위험) | |
| rs4680 | COMT | AG | Val/Met — 중간 | pain modifier |
| rs671 | ALDH2 | GG | 정상 ALDH2 — 술 잘 분해 | alcohol |
| rs7412 | APOE | CT | ε2/ε3 (보호적) | |
| rs762551 | CYP1A2 | CC | Slow metabolizer (*1A/*1A) — 카페인 느리게 분해 | caffeine |
| rs9923231 | VKORC1 | GA | 와파린 용량 ~50% 감소 권장 | warfarin |