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
RS199885252 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS199885274 YARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199885507 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS199885535 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS199885651 CHRNB2 Health Risk Conflicting classifications of pathogenicity Microcephaly, Deeply set eye
RS199886026 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS199886085 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS199886210 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS199886234 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS199886720 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS199887024 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS199887134 SOX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS199887150 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS199887418 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS199887429 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS199887608 CD164 Health Risk Conflicting classifications of pathogenicity CD164-related disorder, CD164-related disorder
RS199887707 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS199887745 SLC25A22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS199888003 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS199888009 L1CAM Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS199888040 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS199888159 FHOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199888171 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS199888357 NPHS1 Health Risk Conflicting classifications of pathogenicity Kidney disorder, NPHS1-related disorder
RS199888401 TBCE Health Risk Conflicting classifications of pathogenicity —
RS199888434 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS199889403 MMACHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease
RS199889415 MED13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, See cases
RS199889477 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS199889888 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199890298 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199890307 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Spastic ataxia 2
RS199890425 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS199890503 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, SIL1-related disorder
RS199890548 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS199890705 NCF4 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS199890776 HNF1A Health Risk Pathogenic Diabetes mellitus, Diabetes mellitus
RS199890906 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS199890987 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199891032 RBFOX3 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS199891090 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS199891110 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6
RS199891240 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS199891245 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199891537 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Inborn genetic diseases
RS199891552 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS199891855 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199891984 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS199892190 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS199892192 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS199892792 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS199893058 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS199893083 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199893133 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS199893334 CTNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199893357 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS199893812 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy
RS199893862 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS199894361 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS199894378 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS199894395 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS199894458 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS199894506 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS199894607 ADGRB2 Health Risk Conflicting classifications of pathogenicity —
RS199894823 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS199894905 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS199894970 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS199895006 RYR1 Health Risk Pathogenic RYR1-related disorder, Central core myopathy
RS199895142 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS199895224 FLG Health Risk Pathogenic —
RS199895244 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS199895260 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS199895459 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS199896513 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Inborn genetic diseases
RS199896699 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS199896714 MSRB3 Health Risk Conflicting classifications of pathogenicity —
RS199897162 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS199897298 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2
RS199897496 GEMIN4 Health Risk Conflicting classifications of pathogenicity —
RS199897497 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS199897562 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS199897804 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS199897861 SPEG Health Risk Conflicting classifications of pathogenicity —
RS199898020 DIABLO Health Risk Conflicting classifications of pathogenicity —
RS199898082 TUBGCP6 Health Risk Conflicting classifications of pathogenicity TUBGCP6-related disorder, Inborn genetic diseases
RS199898437 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS199898782 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS199898869 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS199899291 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS199899494 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS199899548 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS199900211 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS199900436 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS199900459 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiomyopathy
RS199901239 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS199901350 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS199901527 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS199901577 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Lung cancer
RS199901583 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS199901687 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
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