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
RS199999713 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199999754 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis-Noonan syndrome
RS199999862 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 3
RS200000039 KDM2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200000290 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS200000369 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS200000695 KIF26B Health Risk Conflicting classifications of pathogenicity KIF26B-related disorder, KIF26B-related disorder
RS200000734 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS200000984 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Jalili syndrome
RS200001068 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS200001206 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200001272 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS200001471 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS200001533 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200001615 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS200001778 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS200002022 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS200002171 BRAF Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 3, RASopathy
RS200002200 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS200002217 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200002469 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
RS200002716 RUSC2 Health Risk Conflicting classifications of pathogenicity —
RS200002841 TMPRSS3 Health Risk Likely pathogenic —
RS200003617 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS200004039 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS200004048 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS200004068 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS200004126 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS200004156 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS200004220 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS200004304 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS200004724 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHIP-related disorder
RS200004897 TSEN34 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS200005095 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, RIMS1-related disorder
RS200005221 AOC1 Health Risk Conflicting classifications of pathogenicity —
RS200005406 CYP21A2 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia, ADRENAL HYPERPLASIA
RS200006309 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS200006386 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS200006435 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS200006806 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS200006916 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS200007011 HIF3A Health Risk Conflicting classifications of pathogenicity —
RS200007034 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS200007170 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS200007246 CACNA1B Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS200007371 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS200007766 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS200007891 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS200008960 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS200009549 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS200009601 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS200009613 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200009675 PRPH2 Health Risk Conflicting classifications of pathogenicity Adult-onset foveomacular vitelliform dystrophy, Patterned macular dystrophy 1
RS200010052 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS200010109 CYP4V2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200010568 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco addiction, susceptibility to
RS200010601 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS200010694 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200010813 ITGB4 Health Risk Conflicting classifications of pathogenicity ITGB4-related disorder, ITGB4-related disorder
RS200010849 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200011515 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200011880 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS200012281 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200012419 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS200012425 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200013237 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS200013427 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS200013554 RNF31 Health Risk Conflicting classifications of pathogenicity —
RS200013690 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200013784 DLEC1 Health Risk Conflicting classifications of pathogenicity —
RS200013924 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS200013928 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS200014315 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS200014965 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS200015085 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
RS200015685 TSEN54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pontocerebellar hypoplasia type 4
RS200015827 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS200016062 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS200016360 F7 Health Risk Pathogenic/Likely pathogenic Factor VII deficiency, Congenital factor VII deficiency
RS200016893 PSMB8 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS200017020 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS200017073 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS200017138 EDARADD Health Risk Pathogenic Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type
RS200017155 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiomyopathy
RS200017158 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200017171 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS200017313 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS200017837 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS200018103 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS200018177 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200018358 FMN1 Health Risk Conflicting classifications of pathogenicity —
RS200018415 SLC40A1 Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS200018551 ZNF526 Health Risk Conflicting classifications of pathogenicity ZNF526-related disorder, ZNF526-related disorder
RS200018557 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS200018583 DIAPH3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant auditory neuropathy 1, DIAPH3-related disorder
RS200018596 PIK3CA Health Risk Conflicting classifications of pathogenicity CLAPO syndrome, MACRODACTYLY
RS200018722 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS200018893 ELP4 Health Risk Conflicting classifications of pathogenicity ELP4-related disorder, ELP4-related disorder
RS200019016 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS200019083 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
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