SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS901811301 NRL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS901844850 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS901858017 FANCM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS901867383 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS901905420 EMC1 Health Risk Pathogenic —
RS901923607 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS901983934 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS902030420 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS902066692 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS902069811 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS902082118 CSRP3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy 12
RS902091666 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS902098621 SERPINF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS902124045 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS902145121 TMEM237 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 14, Joubert syndrome 14
RS902156961 DNAAF2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS902162035 CDH3 Health Risk Likely pathogenic —
RS902213391 ATAD3A Health Risk Likely pathogenic Harel-Yoon syndrome, Harel-Yoon syndrome
RS902231692 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS902313238 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia 1, Anauxetic dysplasia
RS902326390 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS902336078 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS902350422 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS902372912 TTN Health Risk Likely pathogenic —
RS902407269 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS902419565 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS902456479 TSC2 Health Risk Pathogenic —
RS902462590 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS902551587 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS902637144 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS902642850 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS902687469 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS902694906 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS902734999 OTOGL Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS902739109 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS902750903 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS902753970 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS902755970 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS902775927 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS902795242 ERCC6L2 Health Risk Pathogenic Premature ovarian insufficiency, Premature ovarian insufficiency
RS902803165 CDK13 Health Risk Conflicting classifications of pathogenicity CDK13-related disorder, CDK13-related disorder
RS902819798 FRAS1 Health Risk Pathogenic FRAS1-related disorder, FRAS1-related disorder
RS902837579 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS902856341 PCARE Health Risk Pathogenic —
RS902876049 RP1L1 Health Risk Likely pathogenic RP1L1-related disorder, RP1L1-related disorder
RS902876126 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS902890400 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS902919427 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS902952044 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS902954756 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS902976276 ATP2B1 Health Risk Pathogenic —
RS902988637 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS903011938 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS903042632 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS903101532 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS903118000 COL11A2 Health Risk Pathogenic —
RS903127278 PLPBP Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS903141690 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS903145299 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1D
RS903152944 POLE Health Risk Pathogenic —
RS903178066 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS903199574 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS903202071 IFNAR2 Health Risk Likely pathogenic —
RS903245146 ADAMTS13 Health Risk Pathogenic/Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS903257336 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS903259179 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS903296221 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS903298698 SLC38A8 Health Risk Likely pathogenic —
RS903329492 C2 Health Risk Likely pathogenic —
RS903350409 SETD1A Health Risk Pathogenic —
RS903354438 TMEM231 Health Risk Pathogenic Meckel syndrome, type 11
RS903413018 CYP1B1 Health Risk Pathogenic/Likely pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS903436781 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS903442271 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS903461633 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS903500513 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS903513958 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS903594842 SPG7 Health Risk Conflicting classifications of pathogenicity —
RS903604256 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS903648091 TTN Health Risk Conflicting classifications of pathogenicity —
RS903653902 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS903690171 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS903771343 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Inborn genetic diseases
RS903777283 CARMIL2 Health Risk Pathogenic —
RS903778224 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS903781940 AP3D1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS903787363 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS903796415 TBCE Health Risk Pathogenic —
RS903809826 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS903815010 ZEB2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS903823830 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS903837263 ZIC4 Health Risk Conflicting classifications of pathogenicity —
RS903839861 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS903847229 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Inborn genetic diseases
RS903873576 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS903933027 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS903939170 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS903976524 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS903990993 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS904001781 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
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