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
RS2100841033 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100842233 CHD5 Health Risk Likely pathogenic Global developmental delay, Seizure
RS2100843378 CHD5 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2100843382 CHD5 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Intellectual disability
RS2100844517 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100844690 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS2100846484 CHD5 Health Risk Likely pathogenic Seizure, Parenti-mignot neurodevelopmental syndrome
RS2100847449 CHD5 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Seizure
RS2100849117 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100849229 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100849251 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100851333 COL11A1 Health Risk Likely pathogenic —
RS2100851477 CHD5 Health Risk Likely pathogenic —
RS2100852410 COL11A1 Health Risk Pathogenic —
RS2100852418 COL11A1 Health Risk Pathogenic Marshall syndrome, Stickler syndrome type 2
RS2100852782 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100853005 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100853065 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100854670 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100856157 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS2100858186 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS2100858599 GNB1 Health Risk Pathogenic —
RS2100858748 GNB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 42
RS2100860639 CHD5 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2100863089 CHD5 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2100864027 COL11A1 Health Risk Likely pathogenic —
RS2100867585 MASP2 Health Risk Likely pathogenic —
RS2100868745 CHD5 Health Risk Likely pathogenic Global developmental delay, Seizure
RS2100869173 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100872124 GLMN Health Risk Pathogenic Glomuvenous malformation, Inborn genetic diseases
RS2100872719 CDC14A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 32, Autosomal recessive nonsyndromic hearing loss 32
RS2100876312 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100876453 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100901805 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2100903095 GLMN Health Risk Pathogenic —
RS2100916221 SKI Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2100916637 GLMN Health Risk Pathogenic/Likely pathogenic See cases, Vascular skin disorders
RS2100921727 MTOR Health Risk Conflicting classifications of pathogenicity —
RS2100922903 MTOR Health Risk Conflicting classifications of pathogenicity —
RS2100925460 COL11A1 Health Risk Pathogenic —
RS2100932956 LEPR Health Risk Likely pathogenic Early onset severe obesity, Early onset severe obesity
RS2100949783 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS2100954909 PIK3CD Health Risk Likely pathogenic Immunodeficiency 14, Immunodeficiency 14
RS2100954945 PIK3CD Health Risk Likely pathogenic Immunodeficiency 14, Immunodeficiency 14
RS2100956273 PIK3CD Health Risk Pathogenic Immunodeficiency 14b, autosomal recessive
RS2100972370 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2100972539 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2100976217 PIK3CD Health Risk Pathogenic Combined immunodeficiency with faciooculoskeletal anomalies, Combined immunodeficiency with faciooculoskeletal anomalies
RS2100982320 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS2100983961 MTOR Health Risk Pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2100987881 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2100987980 ABCA4 Health Risk Pathogenic —
RS2100988221 ABCA4 Health Risk Pathogenic ABCA4-related retinopathy, ABCA4-related retinopathy
RS2100988422 ABCA4 Health Risk Pathogenic —
RS2100988650 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS2100990445 PIK3CD Health Risk Pathogenic Immunodeficiency 14b, autosomal recessive
RS2100991976 GNB1 Health Risk Pathogenic —
RS2100992189 AP4B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2100993446 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS2100993531 ABCA4 Health Risk Pathogenic —
RS2100993760 ABCA4 Health Risk Pathogenic —
RS2100993895 ABCA4 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy
RS2100994047 ABCA4 Health Risk Pathogenic —
RS2100994049 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS2100994077 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, ABCA4-related disorder
RS2100994099 ABCA4 Health Risk Likely pathogenic —
RS2100994885 AP4B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2100995157 AP4B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2100995699 ABCA4 Health Risk Pathogenic —
RS2100996308 HENMT1 Health Risk Pathogenic Azoospermia, Azoospermia
RS2100997427 AP4B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2100998416 AP4B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2101000353 ABCA4 Health Risk Pathogenic —
RS2101000357 ABCA4 Health Risk Pathogenic —
RS2101000542 ABCA4 Health Risk Pathogenic —
RS2101000596 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2101000962 DRAM2 Health Risk Pathogenic —
RS2101003223 ABCA4 Health Risk Likely pathogenic —
RS2101003323 ABCA4 Health Risk Likely pathogenic —
RS2101003456 ABCA4 Health Risk Likely pathogenic —
RS2101004096 ABCA4 Health Risk Pathogenic —
RS2101004195 ABCA4 Health Risk Likely pathogenic —
RS2101005282 DRAM2 Health Risk Pathogenic —
RS2101005817 CSDE1 Health Risk Pathogenic —
RS2101007411 ABCA4 Health Risk Pathogenic —
RS2101007419 ABCA4 Health Risk Pathogenic —
RS2101007643 ABCA4 Health Risk Pathogenic —
RS2101008251 ABCA4 Health Risk Likely pathogenic —
RS2101008373 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS2101008577 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2101008674 TSHB Health Risk Likely pathogenic Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
RS2101013633 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2101013784 ABCA4 Health Risk Pathogenic —
RS2101013876 ABCA4 Health Risk Likely pathogenic —
RS2101015147 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Spastic paraplegia
RS2101015376 ABCA4 Health Risk Pathogenic —
RS2101015583 ABCA4 Health Risk Pathogenic —
RS2101017052 COL11A1 Health Risk Likely pathogenic —
RS2101017789 COL11A1 Health Risk Pathogenic —
RS2101018240 NGF Health Risk Pathogenic Congenital sensory neuropathy with selective loss of small myelinated fibers, Peripheral neuropathy
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