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
RS1577288305 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1577296602 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1577297114 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1577301137 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1577301589 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1577309042 CC2D2A Health Risk Likely pathogenic —
RS1577311264 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1577313897 CAMTA1 Health Risk Pathogenic CAMTA1-related disorder, CAMTA1-related disorder
RS1577317859 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1577327315 OPA1 Health Risk Pathogenic —
RS1577328073 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1577328234 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1577329627 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1577329665 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1577330805 SLIT2 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS1577335678 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1577340510 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1577342347 TTN Health Risk Conflicting classifications of pathogenicity —
RS1577358031 PCYT1A Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Leber congenital amaurosis
RS1577362316 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1577362553 CAMTA1 Health Risk Pathogenic —
RS1577367082 P2RY12 Health Risk Likely pathogenic Abnormal platelet function, Abnormal platelet function
RS1577372471 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1577378975 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1577392897 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1577395250 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1577396376 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Joubert syndrome 9
RS1577406415 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS1577418477 SERPINI1 Health Risk Pathogenic Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
RS1577430815 CLDN16 Health Risk Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS1577432849 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS1577432872 CLDN16 Health Risk Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS1577433734 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1577434780 NSD2 Health Risk Likely pathogenic NSD2-related disorder, NSD2-related disorder
RS1577455542 SLC33A1 Health Risk Pathogenic Huppke-Brendel syndrome, Huppke-Brendel syndrome
RS1577455897 SLC33A1 Health Risk Pathogenic Huppke-Brendel syndrome, Huppke-Brendel syndrome
RS1577482029 SLC33A1 Health Risk Pathogenic Huppke-Brendel syndrome, Huppke-Brendel syndrome
RS1577484648 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS1577488520 ATR Health Risk Likely pathogenic —
RS1577508778 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1577508801 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1577513795 ATR Health Risk Likely pathogenic —
RS1577516447 RNF168 Health Risk Pathogenic RIDDLE syndrome, RIDDLE syndrome
RS1577532139 NSD2 Health Risk Pathogenic —
RS1577541504 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1577544451 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1577548638 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577560349 PHOX2B Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1577564571 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1577584497 NSD2 Health Risk Pathogenic —
RS1577599764 SEPSECS Health Risk Likely pathogenic —
RS1577629146 SEPSECS Health Risk Likely pathogenic —
RS1577636079 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577638781 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1577663625 EVC Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1577664431 EVC Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1577705191 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577705861 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577709157 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577709665 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577711317 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577715382 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577735147 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Ovarian cancer
RS1577744410 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577746412 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577800481 GABRA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 78
RS1577822861 WDR19 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Asphyxiating thoracic dystrophy 5
RS1577823005 WDR19 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1577824925 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1577833924 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1577845276 PROM1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PROM1-related disorder
RS1577876794 PLS1 Health Risk Likely pathogenic Hearing loss, autosomal dominant 76
RS1577878190 CEP135 Health Risk Conflicting classifications of pathogenicity Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS1577886635 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577888985 PLS1 Health Risk Conflicting classifications of pathogenicity Hereditary hearing loss and deafness, Hearing loss
RS1577890764 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1577892185 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577939845 ALB Health Risk Pathogenic Analbuminemia, Analbuminemia
RS1577943445 WDR19 Health Risk Likely pathogenic —
RS1577952322 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577952992 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1577954678 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1577967076 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577975808 GABRA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 78
RS1577988952 KIT Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS1577992594 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Germinoma
RS1577993720 COQ2 Health Risk Likely pathogenic Coenzyme Q10 deficiency, primary
RS1577994279 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1577995761 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1578000525 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1578001457 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1578003055 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1578007148 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1578009926 NEB Health Risk Likely pathogenic —
RS1578011278 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1578046154 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1578054973 PROM1 Health Risk Pathogenic —
RS1578059695 CNGA1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1578066770 CNGA1 Health Risk Likely pathogenic —
RS1578084690 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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