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
RS1563946658 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1563948056 MPDZ Health Risk Pathogenic —
RS1563948951 TJP2 Health Risk Pathogenic —
RS1563950539 TJP2 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS1563959514 RORB Health Risk Pathogenic/Likely pathogenic Epilepsy, idiopathic generalized
RS1563960433 CREB3;GBA2 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 46
RS1563961179 APTX Health Risk Pathogenic —
RS1563963464 APTX Health Risk Likely pathogenic Ataxia, early-onset
RS1563966097 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS1563967576 APTX Health Risk Likely pathogenic —
RS1563974797 VPS13A Health Risk Pathogenic primray hypomagnesemia with secondary hypocalcemia, primray hypomagnesemia with secondary hypocalcemia
RS1563976866 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1563978827 EEF1D Health Risk Pathogenic Autosomal recessive non-syndromic intellectual disability, Neurodevelopmental disorder with thin corpus callosum
RS1563979243 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1563980403 VCP Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1563980966 VCP Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1563980979 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1563981227 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1563981743 MYORG Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS1563981857 MYORG Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS1563982489 MYORG Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS1563983151 TOPORS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 31, Retinal dystrophy
RS1563983184 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1563983269 FBP1 Health Risk Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1563984164 FBP1 Health Risk Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1563984976 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS1563986439 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS1563986833 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1563988849 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1563989427 TPK1 Health Risk Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS1563991556 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1563993649 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1563996824 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1563998317 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1564004796 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1564005155 KAT6A Health Risk Pathogenic/Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1564005341 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1564008885 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1564009755 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564010191 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1564012541 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS1564013046 KAT6A Health Risk Likely pathogenic —
RS1564016699 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1564019780 PLEC Health Risk Conflicting classifications of pathogenicity —
RS1564025732 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1564026963 MPDZ Health Risk Pathogenic —
RS1564029811 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS1564030530 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564030723 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1564030910 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS1564031259 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1564032829 PTCH1 Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS1564034077 AGTPBP1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1564034820 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1564035076 B4GALT1 Health Risk Pathogenic B4GALT1-congenital disorder of glycosylation, B4GALT1-congenital disorder of glycosylation
RS1564035949 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564035967 AGTPBP1 Health Risk Conflicting classifications of pathogenicity Neurodegeneration, childhood-onset
RS1564038389 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1564038539 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS1564039543 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1564041582 AGTPBP1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1564045331 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1564046794 AGTPBP1 Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS1564050178 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564050405 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564051237 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564051834 PTCH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1564053040 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564054554 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1564055259 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell carcinoma
RS1564055606 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564055612 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1564055868 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564058147 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564058222 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564061618 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1564061982 BICD2 Health Risk Pathogenic Spinal muscular atrophy, lower extremity-predominant
RS1564062144 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1564063386 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564063967 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1564065545 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1564067737 ANK2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1564069651 AGTPBP1 Health Risk Likely pathogenic Global developmental delay, Aplasia/Hypoplasia of the cerebellum
RS1564069807 AGTPBP1 Health Risk Likely pathogenic Global developmental delay, Motor polyneuropathy
RS1564071824 AGTPBP1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1564072453 ELP1 Health Risk Conflicting classifications of pathogenicity —
RS1564072540 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS1564072946 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1564077060 CA2 Health Risk Pathogenic —
RS1564077207 AGO2 Health Risk Pathogenic/Likely pathogenic Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
RS1564077542 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1564084140 ELP1 Health Risk Pathogenic —
RS1564088181 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1564093439 ELP1 Health Risk Likely pathogenic —
RS1564096221 SIGMAR1 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 2, Autosomal recessive distal spinal muscular atrophy 2
RS1564096502 ELP1 Health Risk Pathogenic —
RS1564096761 SIGMAR1 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
RS1564100957 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1564101619 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1564102412 ELP1 Health Risk Likely pathogenic —
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