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
RS2146210932 GNAS Health Risk Pathogenic —
RS2146211217 GNAS Health Risk Pathogenic/Likely pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146211234 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2146213143 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2146213651 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2146215644 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2146216115 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2146216467 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2146217813 STXBP2 Health Risk Pathogenic HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL
RS2146218837 NLRP7 Health Risk Pathogenic —
RS2146220482 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2146223995 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS2146226413 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2146227158 TLK2 Health Risk Pathogenic —
RS2146228345 TLK2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2146234214 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146234527 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146234838 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS2146235121 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146235138 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146236249 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146236314 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146236515 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146237857 APP Health Risk Likely pathogenic Alzheimer disease type 1, Alzheimer disease type 1
RS2146237965 APP Health Risk Pathogenic Alzheimer disease, Alzheimer disease
RS2146238910 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146239036 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146241760 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2146247619 NSF Health Risk Pathogenic Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96
RS2146254238 XPNPEP3 Health Risk Pathogenic Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS2146259279 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2146261671 NSF Health Risk Likely pathogenic Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96
RS2146264329 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2146264846 GNAS Health Risk Likely pathogenic —
RS2146265828 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2146265987 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2146266663 NSF Health Risk Likely pathogenic Developmental and epileptic encephalopathy 96, Developmental and epileptic encephalopathy 96
RS2146269292 TANC2 Health Risk Pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2146269629 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2146270332 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146270735 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146270895 XPNPEP3 Health Risk Pathogenic Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS2146271310 GNAS Health Risk Pathogenic Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism
RS2146272015 GNAS Health Risk Pathogenic —
RS2146272908 GNAS Health Risk Likely pathogenic —
RS2146274500 XPNPEP3 Health Risk Likely pathogenic —
RS2146276502 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intellectual disability
RS2146278333 GNAS Health Risk Likely pathogenic —
RS2146278555 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type 1B
RS2146278813 SPINT2 Health Risk Likely pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS2146278822 SPINT2 Health Risk Likely pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS2146279050 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146279917 SPINT2 Health Risk Likely pathogenic —
RS2146283488 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146284067 CACNA1G Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS2146285582 GNAS Health Risk Pathogenic/Likely pathogenic Pseudohypoparathyroidism type I A, GNAS-related disorder
RS2146285803 GNAS Health Risk Likely pathogenic —
RS2146289554 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146290056 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Progressive osseous heteroplasia
RS2146290960 GNAS Health Risk Likely pathogenic Progressive osseous heteroplasia, Progressive osseous heteroplasia
RS2146291027 GNAS Health Risk Conflicting classifications of pathogenicity —
RS2146292463 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, GNAS-related disorder
RS2146292888 GNAS Health Risk Pathogenic —
RS2146297115 TIMP3 Health Risk Likely pathogenic —
RS2146299968 GNAS Health Risk Pathogenic/Likely pathogenic Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type I A
RS2146300173 GNAS Health Risk Pathogenic —
RS2146300427 GNAS Health Risk Pathogenic 8 conditions, 8 conditions
RS2146300461 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146300587 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146304851 GNAS Health Risk Likely pathogenic Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2146304864 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146305127 GNAS Health Risk Pathogenic/Likely pathogenic Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism type I A
RS2146305299 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146305350 GNAS Health Risk Pathogenic —
RS2146305803 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS2146305978 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146306279 GNAS Health Risk Pathogenic —
RS2146306658 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146306727 GNAS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2146308296 DNAJC5 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS2146309254 ARSG Health Risk Pathogenic —
RS2146310027 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2146314496 KANSL1 Health Risk Likely pathogenic Dysplastic corpus callosum, Dysplastic corpus callosum
RS2146314563 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146314756 KANSL1 Health Risk Pathogenic/Likely pathogenic Koolen-de Vries syndrome, KANSL1-related disorder
RS2146315211 MN1 Health Risk Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS2146321981 IDH3B Health Risk Likely pathogenic —
RS2146325401 MYH9 Health Risk Pathogenic —
RS2146325507 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146336447 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2146336516 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2146338937 TLK2 Health Risk Likely pathogenic See cases, TLK2-related disorder
RS2146340713 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS2146342598 ICOSLG Health Risk Likely pathogenic Combined immunodeficiency, Combined immunodeficiency
RS2146343691 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146344203 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146344336 MYH9 Health Risk Pathogenic —
RS2146345102 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia
RS2146357374 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2146357893 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
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