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
RS774902198 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS774902843 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS774903187 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774903749 KIAA0753 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Orofaciodigital syndrome XV
RS774905343 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS774905373 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS774906516 CHD8 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS774906736 SACS Health Risk Pathogenic Spastic paraplegia, Inborn genetic diseases
RS774906865 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS774906916 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS774907553 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder
RS774907866 COL4A4 Health Risk Likely pathogenic —
RS774908929 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS774909609 DNAJB5 Health Risk Conflicting classifications of pathogenicity Skeletal myopathy, Peripheral neuropathy
RS774910076 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS774910975 KAT6A Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS774914799 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS774916799 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD
RS774916970 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS774919231 RYR1 Health Risk Likely pathogenic Congenital muscular dystrophy, Respiratory insufficiency
RS774919609 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS774919846 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS774919996 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS774921125 LOXHD1 Health Risk Likely pathogenic LOXHD1-related disorder, LOXHD1-related disorder
RS774921196 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS774921373 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS774922468 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS774922597 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS774922675 AMER1 Health Risk Likely pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS774923951 RARS2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pontocerebellar hypoplasia type 6
RS774924294 TTN Health Risk Conflicting classifications of pathogenicity —
RS774924596 NLRC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial cold autoinflammatory syndrome 4
RS774925473 ATM Health Risk Pathogenic Ataxia - telangiectasia variant, Ataxia-telangiectasia syndrome
RS774926455 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS774926464 CBS Health Risk Likely pathogenic —
RS774927302 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS774927461 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS774927826 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774927838 TBXAS1 Health Risk Pathogenic —
RS774929973 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS774930802 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS774931205 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS774931523 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS774932046 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS774932064 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS774932781 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS774933514 GLE1 Health Risk Pathogenic —
RS774934005 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS774934840 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS774935614 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS774936724 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS774936846 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS774937055 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS774937129 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS774937703 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774939814 KIF1C Health Risk Pathogenic Spastic ataxia 2, Spastic ataxia 2
RS774941511 CHM Health Risk Pathogenic —
RS774943243 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS774943545 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS774943691 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS774943840 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS774944622 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS774944729 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Melanoma
RS774945335 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Developmental and epileptic encephalopathy
RS774945680 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS774945928 FLNC Health Risk Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS774946397 CCDC50 Health Risk Conflicting classifications of pathogenicity —
RS774948236 CYP11B2 Health Risk Likely pathogenic Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency
RS774949132 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS774949203 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS774949595 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS774949844 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS774950354 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774951398 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS774951734 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS774952373 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS774952444 APC Health Risk Conflicting classifications of pathogenicity Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS774954250 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774954394 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774954465 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS774955611 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS774956570 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774957793 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS774958165 MMAA Health Risk Likely pathogenic —
RS774958328 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS774958790 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS774959350 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS774959381 ATP8A2 Health Risk Conflicting classifications of pathogenicity —
RS774959930 INTS1 Health Risk Likely pathogenic Neurodevelopmental disorder with cataracts, poor growth
RS774961188 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS774961818 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774963273 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS774963422 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774963498 ADA2 Health Risk Likely pathogenic —
RS774963514 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 10A (Zellweger), Hepatocellular carcinoma
RS774964227 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS774964432 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS774965131 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS77496539 TTN;TTN-AS1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774966208 NOTCH1 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
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