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
RS1310355874 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1310357008 SLC38A8 Health Risk Pathogenic —
RS1310363710 UCHL1 Health Risk Pathogenic Spastic paraplegia 79A, autosomal dominant
RS1310380278 ESCO2 Health Risk Pathogenic —
RS1310397756 F2 Health Risk Likely pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS1310399994 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1310418564 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1310424203 HCN4 Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 2, autosomal dominant
RS1310426368 CENATAC Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 4, Mosaic variegated aneuploidy syndrome 4
RS1310427311 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1310430913 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1310432892 MSH3 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Endometrial carcinoma
RS1310447389 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS1310452604 FGG Health Risk Conflicting classifications of pathogenicity Hypofibrinogenemia, Familial dysfibrinogenemia
RS1310452605 ERCC6 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS1310461523 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1310470715 LRP2 Health Risk Pathogenic LRP2-related disorder, LRP2-related disorder
RS1310471207 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS1310479415 MYO15A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1310506980 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1310509066 HSPG2 Health Risk Pathogenic —
RS1310529041 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1310548000 SIX6 Health Risk Likely pathogenic See cases, See cases
RS1310560334 PLCZ1 Health Risk Pathogenic Spermatogenic failure 17, Spermatogenic failure 17
RS1310569366 CHP1 Health Risk Pathogenic Spastic ataxia 9, autosomal recessive
RS1310629937 EXOC7 Health Risk Pathogenic Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy
RS1310639053 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1310654829 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1310672924 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1310679270 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS1310680343 RAB3GAP1 Health Risk Pathogenic —
RS1310684026 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1310690401 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1310692062 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1310705934 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1310719199 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1310735399 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1310744956 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS1310771479 LMX1A;LMX1A-AS2 Health Risk Likely pathogenic —
RS1310777713 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1310777849 FRRS1L Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 37
RS1310779676 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1310783792 STX3 Health Risk Pathogenic —
RS1310787426 MGAT2 Health Risk Pathogenic MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
RS1310802903 DST Health Risk Likely pathogenic —
RS1310828595 PTPRQ Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS1310829877 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1310830010 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1310852326 PHOX2B Health Risk Pathogenic Haddad syndrome, Haddad syndrome
RS1310861578 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1310873497 MAP1B Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS1310884700 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1310889473 IFNAR2 Health Risk Pathogenic/Likely pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Immunodeficiency 45
RS1310897860 TG Health Risk Pathogenic —
RS1310922131 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1310930757 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Laterality defects
RS1310948800 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1310951750 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS1310952470 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1310955639 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1310956961 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck
RS1310982370 TBX19 Health Risk Likely pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS1310996698 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1311041431 KIDINS220 Health Risk Likely pathogenic —
RS1311042980 NPHP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 1
RS1311056281 SKIC3 Health Risk Pathogenic —
RS1311057690 DMD Health Risk Conflicting classifications of pathogenicity —
RS1311074831 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1311078034 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1311096326 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1311110494 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1311127815 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1311139055 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1311146809 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1311148380 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1311178060 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1311180360 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS1311193105 PET100 Health Risk Pathogenic —
RS1311193836 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1311197882 ZNF335 Health Risk Pathogenic —
RS1311215973 TENT5A Health Risk Likely pathogenic Esophageal atresia, Pyloric stenosis
RS1311224729 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1311228469 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1311265074 SPTB Health Risk Likely pathogenic —
RS1311271225 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1311274985 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS1311286117 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism
RS1311294794 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1311296877 RUNX2 Health Risk Pathogenic Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
RS1311308523 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1311320845 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1311321396 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS1311326943 TBCK Health Risk Likely pathogenic —
RS1311374961 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1311395605 EYS Health Risk Pathogenic —
RS1311396994 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1311408888 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1311416761 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1311417881 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1311437424 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
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