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
RS2139149392 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139151883 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139154447 COL4A1 Health Risk Likely pathogenic COL4A1-related disorder, COL4A1-related disorder
RS2139154502 COL4A1 Health Risk Likely pathogenic —
RS2139154554 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139154591 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139156007 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139156141 COL4A1 Health Risk Pathogenic —
RS2139156180 COL4A1 Health Risk Likely pathogenic —
RS2139156207 COL4A1 Health Risk Pathogenic —
RS2139156247 COL4A1 Health Risk Pathogenic/Likely pathogenic COL4A1 or COL4A2-related cerebral small vessel disease, COL4A1 or COL4A2-related cerebral small vessel disease
RS2139156261 COL4A1 Health Risk Likely pathogenic —
RS2139156269 COL4A1 Health Risk Likely pathogenic —
RS2139156519 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS2139159547 COL4A1 Health Risk Likely pathogenic —
RS2139159594 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139160332 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139160399 COL4A1 Health Risk Pathogenic Porencephaly, Porencephaly
RS2139160417 COL4A1 Health Risk Likely pathogenic —
RS2139160608 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS2139160679 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS2139160690 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS2139161185 COL4A1 Health Risk Pathogenic —
RS2139162409 COL4A1 Health Risk Likely pathogenic —
RS2139162416 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139162697 COL4A1 Health Risk Pathogenic —
RS2139162750 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139162773 COL4A1 Health Risk Likely pathogenic —
RS2139162781 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139162955 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, COL4A1-related disorder
RS2139162968 COL4A1 Health Risk Likely pathogenic —
RS2139163058 COL4A1 Health Risk Pathogenic/Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, COL4A1-related disorder
RS2139163073 COL4A1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2139163087 COL4A1 Health Risk Pathogenic —
RS2139163150 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS2139163985 COL4A1 Health Risk Pathogenic —
RS2139164015 COL4A1 Health Risk Likely pathogenic —
RS2139164265 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139164302 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139165126 COL4A1 Health Risk Likely pathogenic COL4A1-related disorder, COL4A1-related disorder
RS2139165506 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139165521 COL4A1 Health Risk Pathogenic —
RS2139165584 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139165606 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139168888 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS2139169535 COL4A1 Health Risk Likely pathogenic —
RS2139169623 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139169706 COL4A1 Health Risk Likely pathogenic —
RS2139169795 COL4A1 Health Risk Likely pathogenic —
RS2139173063 COL4A1 Health Risk Pathogenic —
RS2139173181 COL4A1 Health Risk Likely pathogenic —
RS2139173182 COL4A1 Health Risk Pathogenic —
RS2139173980 COL4A1 Health Risk Likely pathogenic —
RS2139174027 COL4A1 Health Risk Pathogenic —
RS2139175288 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS2139176356 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS2139179173 COL4A1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS2139180203 RCBTB1 Health Risk Likely pathogenic —
RS2139180575 RCBTB1 Health Risk Likely pathogenic —
RS2139180733 RCBTB1 Health Risk Pathogenic —
RS2139186499 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Spermatogenic failure 28
RS2139186964 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139187274 COL4A1 Health Risk Likely pathogenic Cerebral palsy, Cerebral palsy
RS2139187383 COL4A1 Health Risk Likely pathogenic Seizure, Seizure
RS2139187455 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139193234 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2139193356 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2139193533 SEC23A Health Risk Likely pathogenic Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
RS2139201007 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2139201690 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2139202259 COL4A1 Health Risk Likely pathogenic —
RS2139204356 COL4A1 Health Risk Pathogenic —
RS2139207205 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2139207338 COL4A1 Health Risk Likely pathogenic —
RS2139207389 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139208029 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2139209584 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2139212032 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2139212289 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2139214355 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139220914 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2139227650 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS2139228423 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS2139228853 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2139231251 RCBTB1 Health Risk Likely pathogenic —
RS2139231902 RCBTB1 Health Risk Pathogenic —
RS2139234396 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2139235421 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2139237156 RPGRIP1 Health Risk Likely pathogenic —
RS2139241694 FANCM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fanconi anemia
RS2139242065 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS2139244126 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2139245731 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2139248770 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139249281 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139252496 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139254240 FANCM Health Risk Likely pathogenic —
RS2139288271 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS2139289081 OSGEP Health Risk Pathogenic —
RS2139289899 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
« Prev 1 ... 1806 1807 1808 1809 1810 1811 1812 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →