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
RS2125890780 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2125891603 COL4A3 Health Risk Pathogenic —
RS2125893875 SCN5A Health Risk Likely pathogenic —
RS2125900759 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125900955 LRIT3 Health Risk Pathogenic Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS2125901090 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS2125901211 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125901408 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125901597 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125901686 SCN5A Health Risk Pathogenic —
RS2125901794 SCN5A Health Risk Pathogenic —
RS2125902731 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125902746 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125902896 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125902923 SCN5A Health Risk Pathogenic —
RS2125903168 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125903643 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome
RS2125904309 COL4A3 Health Risk Likely pathogenic —
RS2125904394 COL4A3 Health Risk Pathogenic —
RS2125905004 SCN5A Health Risk Likely pathogenic —
RS2125905710 SCN5A Health Risk Pathogenic —
RS2125906059 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Cardiovascular phenotype
RS2125906068 SCN5A Health Risk Likely pathogenic Cardiovascular phenotype, Familial sick sinus syndrome
RS2125906801 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS2125910105 COL4A3 Health Risk Pathogenic —
RS2125910133 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome
RS2125910371 SCN5A Health Risk Pathogenic —
RS2125911950 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2125914087 COL4A3 Health Risk Pathogenic Alport syndrome 3b, autosomal recessive
RS2125914209 SCN5A Health Risk Likely pathogenic Cardiac arrhythmia, Brugada syndrome 1
RS2125914363 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS2125916202 COL4A3 Health Risk Likely pathogenic —
RS2125920882 AIMP1 Health Risk Pathogenic Hypotonia, Hypotonia
RS2125920971 SCN5A Health Risk Pathogenic —
RS2125922727 SCN5A Health Risk Pathogenic —
RS2125924465 COL4A3 Health Risk Likely pathogenic —
RS2125924619 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS2125924714 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2125925871 KIF1A Health Risk Likely pathogenic Neuropathy, hereditary sensory
RS2125926196 AIMP1 Health Risk Pathogenic —
RS2125927453 COL25A1 Health Risk Likely pathogenic Fibrosis of extraocular muscles, congenital
RS2125931691 SCN5A Health Risk Pathogenic —
RS2125932297 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS2125932350 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2125934511 COL4A3 Health Risk Pathogenic —
RS2125934541 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2125934710 COL4A3 Health Risk Likely pathogenic —
RS2125935394 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Brugada syndrome (shorter-than-normal QT interval)
RS2125935492 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome 1, Brugada syndrome
RS2125936439 COL4A3 Health Risk Pathogenic —
RS2125936494 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2125936534 COL4A3 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2125940514 COL4A3 Health Risk Pathogenic —
RS2125941952 COL4A3 Health Risk Pathogenic —
RS2125942518 FAT4 Health Risk Pathogenic —
RS2125943281 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125943327 MLH1 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2125943381 MLH1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2125945214 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125945833 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125947143 COL4A3 Health Risk Likely pathogenic —
RS2125956496 COL4A3 Health Risk Pathogenic —
RS2125956727 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2125956798 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2125957548 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2125957563 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125957613 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125957627 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125957824 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125957913 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2125957980 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125958173 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125958240 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125958437 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2125961866 COL4A3 Health Risk Pathogenic —
RS2125961933 COL4A3 Health Risk Pathogenic/Likely pathogenic COL4A3-related disorder, Alport syndrome
RS2125965261 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS2125972268 COL4A3 Health Risk Pathogenic —
RS2125972390 COL4A3 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2125972772 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS2125972883 COL4A3 Health Risk Pathogenic —
RS2125976529 KIF1A Health Risk Likely pathogenic Neuropathy, hereditary sensory
RS2125976585 KIF1A Health Risk Pathogenic Intellectual disability, autosomal dominant 9
RS2125976707 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2125976763 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2125976792 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2125981183 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2125981235 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS2125981899 UGT1A1 Health Risk Likely pathogenic Gilbert syndrome, Gilbert syndrome
RS2125982058 SCLT1 Health Risk Pathogenic —
RS2125982395 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS2125983046 UGT1A1 Health Risk Pathogenic —
RS2125984067 MLH1 Health Risk Pathogenic —
RS2125984234 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125984263 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2125984506 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125984594 MLH1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2125984944 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS2125985001 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125985073 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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