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
RS1755081510 SLC26A2 Health Risk Pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS1755082448 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1755088251 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS1755089179 SLC26A2 Health Risk Pathogenic Atelosteogenesis type II, Diastrophic dysplasia
RS1755089566 SLC26A2 Health Risk Pathogenic/Likely pathogenic Sulfate transporter-related osteochondrodysplasia, Diastrophic dysplasia
RS1755093032 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS1755094376 SLC26A2 Health Risk Pathogenic/Likely pathogenic Sulfate transporter-related osteochondrodysplasia, Atelosteogenesis type II
RS1755096552 SLC26A2 Health Risk Pathogenic/Likely pathogenic Diastrophic dysplasia, Achondrogenesis
RS1755100270 SLC26A2 Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS1755106202 SLC26A2 Health Risk Likely pathogenic Sulfate transporter-related osteochondrodysplasia, Sulfate transporter-related osteochondrodysplasia
RS1755110758 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS1755124330 TRIO Health Risk Pathogenic/Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Inborn genetic diseases
RS1755161249 CTNNA1 Health Risk Pathogenic —
RS1755164133 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1755166497 CTNNA1 Health Risk Pathogenic —
RS1755224830 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1755286581 HINT1 Health Risk Pathogenic —
RS1755319649 CTNNA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1755324870 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1755330256 GABRA1 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy
RS1755333582 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1755334003 GABRA1 Health Risk Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy
RS1755336735 CTNNA1 Health Risk Pathogenic —
RS1755338662 GABRA1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19
RS1755339912 GABRA1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19
RS1755340949 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1755341108 GABRA1 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy
RS1755365079 HINT1 Health Risk Pathogenic —
RS1755403182 MYOT Health Risk Likely pathogenic Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS1755409878 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1755452892 MED12L Health Risk Pathogenic —
RS1755509433 ADGRV1 Health Risk Pathogenic —
RS1755607724 TRIO Health Risk Likely pathogenic —
RS1755639151 CAMK2A Health Risk Likely pathogenic —
RS1755666734 LYRM7 Health Risk Pathogenic —
RS1755688091 ADGRV1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1755691727 ADGRV1 Health Risk Pathogenic —
RS1755693558 ADGRV1 Health Risk Pathogenic —
RS1755703455 PROP1 Health Risk Pathogenic —
RS1755861358 ADGRV1 Health Risk Likely pathogenic Febrile seizures, familial
RS1755899012 ADGRV1 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1755922883 CAMK2A Health Risk Pathogenic —
RS1755969817 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1755980161 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1755987983 NSD1 Health Risk Pathogenic —
RS1756023411 TRIO Health Risk Pathogenic —
RS1756051391 TRIO Health Risk Pathogenic —
RS1756058470 TRIO Health Risk Pathogenic —
RS1756068240 SLC6A3 Health Risk Likely pathogenic Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome
RS1756203781 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1756212683 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS1756220614 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1756282703 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1756316465 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1756328793 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS1756331894 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1756333400 MED12L Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1756336297 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1756339861 APC Health Risk Conflicting classifications of pathogenicity Classic or attenuated familial adenomatous polyposis, Familial adenomatous polyposis 1
RS1756369186 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1756409749 SLC6A3 Health Risk Pathogenic Parkinsonism-dystonia, infantile
RS1756441567 GRXCR2 Health Risk Pathogenic —
RS1756441909 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1756475997 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1756477033 APC Health Risk Pathogenic Colorectal cancer, Familial adenomatous polyposis 1
RS1756480727 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1756503149 GABRB2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS1756517678 NSD1 Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1756522180 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1756728108 ADGRV1 Health Risk Pathogenic —
RS1756866850 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1756936101 TRIO Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1757084798 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1757092904 CSF1R Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Frontotemporal dementia
RS1757197459 CSF1R Health Risk Likely pathogenic Brain abnormalities, neurodegeneration
RS1757202231 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS1757203198 CSF1R Health Risk Pathogenic Leukoencephalopathy, diffuse hereditary
RS1757271243 TUBB2B Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1757276859 TUBB2B Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1757277674 TUBB2B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1757279879 TUBB2B Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS1757363484 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1757372234 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1757380540 BLOC1S5 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11
RS1757381494 BLOC1S5 Health Risk Pathogenic Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11
RS1757419927 CSF1R Health Risk Pathogenic —
RS1757422149 CSF1R Health Risk Pathogenic Leukoencephalopathy, diffuse hereditary
RS1757433662 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1757460270 NDUFA2 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 13
RS1757478199 CSF1R Health Risk Pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS1757528753 CSF1R Health Risk Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy
RS1757529135 CSF1R Health Risk Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy
RS1757571583 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1757572270 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1757573424 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1757581465 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS1757588488 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1757597156 GHR Health Risk Pathogenic/Likely pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS1757602433 NSD1 Health Risk Pathogenic —
RS1757676761 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
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