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
RS2145261994 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145262207 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS2145262260 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145262693 CEBPA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145262808 CEBPA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145262824 CEBPA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145263100 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145263441 CEBPA Health Risk Pathogenic —
RS2145263762 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145264107 CA4 Health Risk Likely pathogenic —
RS2145264339 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145264351 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS2145264731 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145264820 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2145268409 GIPC3 Health Risk Pathogenic —
RS2145272932 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145274818 CA4 Health Risk Likely pathogenic —
RS2145283472 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS2145286437 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145287284 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145288922 MAN2B1 Health Risk Likely pathogenic —
RS2145289462 TNFRSF11A Health Risk Likely pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS2145289566 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145290458 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145290586 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145290706 MAN2B1 Health Risk Pathogenic Craniosynostosis syndrome, Intellectual disability
RS2145290731 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145290929 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145290970 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145290975 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145294424 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145294443 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145294851 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2145299550 BRIP1 Health Risk Pathogenic Carcinoma of pancreas, Carcinoma of pancreas
RS2145300052 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145302423 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145303552 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145305445 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2145306748 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145307439 BRIP1 Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2145307730 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145308907 TNFRSF11A Health Risk Likely pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS2145309285 TNFRSF11A Health Risk Likely pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS2145309425 TNFRSF11A Health Risk Pathogenic —
RS2145309797 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145313422 LAMA3 Health Risk Pathogenic —
RS2145314200 LAMA3 Health Risk Pathogenic —
RS2145316956 KISS1R Health Risk Likely pathogenic —
RS2145318314 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2145320709 KISS1R Health Risk Pathogenic —
RS2145321015 KISS1R Health Risk Pathogenic —
RS2145325959 GNA11 Health Risk Likely pathogenic —
RS2145325982 GNA11 Health Risk Pathogenic Venous malformation, Venous malformation
RS2145326448 GNA11 Health Risk Likely pathogenic Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS2145329230 GNA11 Health Risk Pathogenic/Likely pathogenic —
RS2145329741 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS2145330850 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2145330960 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145331108 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145332634 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145334576 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145334953 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145335364 PEPD Health Risk Pathogenic —
RS2145335406 PEPD Health Risk Likely pathogenic —
RS2145335621 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145336359 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145337853 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145339188 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145339536 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145339928 CRLF1 Health Risk Likely pathogenic Cold-induced sweating syndrome, Cold-induced sweating syndrome
RS2145341765 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145342338 SEMA6B Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2145342359 SEMA6B Health Risk Likely pathogenic —
RS2145342438 SEMA6B Health Risk Conflicting classifications of pathogenicity Intellectual disability, Epilepsy
RS2145342677 SEMA6B Health Risk Pathogenic —
RS2145342741 SEMA6B Health Risk Pathogenic —
RS2145342749 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2145343116 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145346614 SYNE4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS2145347825 SEMA6B Health Risk Likely pathogenic Epilepsy, progressive myoclonic
RS2145350143 CC2D1A Health Risk Pathogenic Intellectual disability, autosomal recessive 3
RS2145350224 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145350631 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2145350930 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C
RS2145351244 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C
RS2145351287 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145351377 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145351545 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145351616 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145351971 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145355764 EEF2 Health Risk Likely pathogenic Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26
RS2145355902 TNFRSF11A Health Risk Pathogenic —
RS2145356541 ASXL1 Health Risk Pathogenic —
RS2145357371 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145357627 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145357685 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145357936 TNFRSF11A Health Risk Pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS2145357984 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145359858 ZNF335 Health Risk Pathogenic Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS2145360404 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
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