SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2465994311 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465994489 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465994537 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465995399 MSH2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2465995662 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465996272 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465996581 MSH2 Health Risk Pathogenic —
RS2465996735 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colon cancer
RS2465996904 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465997027 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2465997355 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS2465997449 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465997704 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2465997830 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465998069 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465998153 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465998192 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465998274 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2465998553 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2465998558 IFT172 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2465998676 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465998998 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2465999619 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465999755 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465999860 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2466000289 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2466000323 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2466000441 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2466005252 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS2466009165 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2466009720 FAM161A Health Risk Pathogenic —
RS2466009782 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466010236 FAM161A Health Risk Pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466016534 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466018180 FAM161A Health Risk Pathogenic —
RS2466021042 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2466021530 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS2466022128 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466022272 FAM161A Health Risk Pathogenic —
RS2466022357 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466022549 SLC5A6 Health Risk Likely pathogenic Neurodegeneration, infantile-onset
RS2466022643 FAM161A Health Risk Pathogenic —
RS2466022812 FAM161A Health Risk Pathogenic —
RS2466022979 FAM161A Health Risk Pathogenic —
RS2466023147 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466023556 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466023933 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466023974 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466024081 FAM161A Health Risk Pathogenic —
RS2466024671 FAM161A Health Risk Pathogenic —
RS2466024865 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466025060 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466025366 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466025634 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466025777 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2466025841 FAM161A Health Risk Pathogenic —
RS2466026125 FAM161A Health Risk Pathogenic —
RS2466026675 FAM161A Health Risk Pathogenic —
RS2466027157 FAM161A Health Risk Pathogenic —
RS2466027282 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466027626 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466028553 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466028752 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466028758 FAM161A Health Risk Pathogenic —
RS2466029102 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466029508 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466031050 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS2466031344 IFT172 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2466033310 FAM161A Health Risk Likely pathogenic —
RS2466033315 FAM161A Health Risk Likely pathogenic —
RS2466033324 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466033468 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2466033546 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466033601 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466033794 FAM161A Health Risk Pathogenic —
RS2466033888 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466033908 FAM161A Health Risk Pathogenic —
RS2466035962 ALMS1 Health Risk Likely pathogenic Cardiovascular phenotype, Alstrom syndrome
RS2466036018 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS2466036341 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466036345 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466036415 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466036616 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466045771 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466045930 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466046164 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466046577 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466046580 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466046617 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466047361 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466047383 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466047422 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466053037 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466053151 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS2466053172 ABCG5 Health Risk Likely pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Sitosterolemia 2
RS2466062942 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466063041 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS2466069640 SLC5A6 Health Risk Pathogenic —
RS2466073590 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS2466073677 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
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