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
RS2080691443 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2080693649 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2080696874 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2080701196 ATM Health Risk Likely pathogenic —
RS2080701610 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2080721288 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2080737926 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2080751565 PRR12 Health Risk Pathogenic —
RS2080756986 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2080758521 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080763536 PRR12 Health Risk Pathogenic PRR12-related disorder, PRR12-related disorder
RS2080765043 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2080765290 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080768582 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2080770674 PRR12 Health Risk Pathogenic —
RS2080771312 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2080772271 PRR12 Health Risk Pathogenic —
RS2080773735 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2080776017 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080776848 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080776854 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2080779329 MED13 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual developmental disorder 61
RS2080781132 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2080782384 PRR12 Health Risk Pathogenic —
RS2080782573 PRR12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2080782866 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome 1
RS2080783149 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2080787306 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2080787333 STK11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2080787350 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2080788003 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2080788122 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2080795769 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080796043 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2080798866 PRR12 Health Risk Likely pathogenic —
RS2080804101 TMEM231 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 20, Joubert syndrome and related disorders
RS2080806593 TMEM231 Health Risk Likely pathogenic Joubert syndrome 20, Meckel syndrome
RS2080807114 TMEM231 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 11
RS2080810222 TMEM231 Health Risk Likely pathogenic —
RS2080810704 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2080813593 PRR12 Health Risk Pathogenic —
RS2080823095 LAMA3 Health Risk Pathogenic —
RS2080823389 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2080824794 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2080842093 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2080853826 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS2080886738 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2080887929 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2080891193 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2080892482 TTN Health Risk Pathogenic —
RS2080897097 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2080897397 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2080898853 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2080899985 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2080900462 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS2080902419 KCNQ2 Health Risk Pathogenic —
RS2080904141 KCNQ2 Health Risk Likely pathogenic —
RS2080905274 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2080906453 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2080906700 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizure, Early-infantile DEE
RS2080907267 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2080909702 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2080924150 MCM3AP Health Risk Likely pathogenic —
RS2080944539 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2080963405 LAMA3 Health Risk Pathogenic —
RS2080975555 SPTBN4 Health Risk Pathogenic —
RS2080978755 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2080979223 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2080984178 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2080986242 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2080993755 LAMA3 Health Risk Likely pathogenic —
RS2080998350 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS2081012243 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS2081036277 ROBO1 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Neurooculorenal syndrome
RS2081039925 ROBO1 Health Risk Pathogenic/Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2081044754 ANO10 Health Risk Pathogenic —
RS2081048927 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS2081052495 ARID1A Health Risk Pathogenic Coffin-Siris syndrome, Coffin-Siris syndrome
RS2081053546 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2081053573 ARID1A Health Risk Pathogenic Coffin-Siris syndrome, Coffin-Siris syndrome
RS2081056659 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS2081058900 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2081071680 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081071796 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS2081084380 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Tibial muscular dystrophy
RS2081095830 MCM3AP Health Risk Pathogenic —
RS2081097112 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081098548 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081099858 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2081101244 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2081102604 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2081105269 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS2081109271 ARID1A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2081113293 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2081119463 ARID1A Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2081122042 MCM3AP Health Risk Pathogenic —
RS2081155250 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Laryngo-onycho-cutaneous syndrome
RS2081156116 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2081158776 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2081161426 MLH1 Health Risk Pathogenic Lynch-like syndrome, Hereditary cancer-predisposing syndrome
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