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
RS1444604286 GLMN Health Risk Pathogenic —
RS1444604511 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS144461124 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Inborn genetic diseases
RS144461244 PDSS2 Health Risk Conflicting classifications of pathogenicity —
RS1444613668 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Inborn genetic diseases
RS144461610 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1444623267 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS144462941 ARHGAP6 Health Risk Conflicting classifications of pathogenicity —
RS144463486 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 1
RS144464757 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS144465058 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS144465428 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS144465638 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS144465703 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144465849 PLOD1 Health Risk Conflicting classifications of pathogenicity —
RS1444665408 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS144466625 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS144466666 SOX6 Health Risk Conflicting classifications of pathogenicity —
RS144467216 TBX18 Health Risk Conflicting classifications of pathogenicity TBX18-related disorder, Ovarian serous cystadenocarcinoma
RS1444672793 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS144467449 CYB5R3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144467609 TET2 Health Risk Conflicting classifications of pathogenicity TET2-related disorder, TET2-related disorder
RS144467811 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS144467873 APOB Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, autosomal dominant
RS144468932 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1444692842 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Cerebral palsy
RS144469584 FAN1 Health Risk Pathogenic/Likely pathogenic FAN1-related disorder, Karyomegalic interstitial nephritis
RS144469629 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS144471060 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS144471413 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS144471639 MSH5 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS1444726635 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1444727212 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS144473052 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1444737333 PNPLA8 Health Risk Pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS1444739794 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS144473998 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS1444741505 TUBGCP6 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS144474368 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS144474638 XYLT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, XYLT2-related disorder
RS144474773 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS144475266 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 10
RS1444754604 GALNS Health Risk Pathogenic Morquio syndrome, Mucopolysaccharidosis
RS144475977 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS144475991 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS144476127 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS1444761945 ZNF862 Health Risk Likely pathogenic Gingival fibromatosis, Fibromatosis
RS1444762600 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS144476508 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS144476686 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1444779891 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS144478519 IL36RN Health Risk Likely pathogenic Generalized pustular psoriasis, Autoinflammatory syndrome
RS1444785718 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1444797750 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1444801979 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS144481204 SIX1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS144481621 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1444819796 ST3GAL5 Health Risk Pathogenic/Likely pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1444821472 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS144482403 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS1444826704 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS144484007 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH deficiency
RS1444840655 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1444841250 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS144484128 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS144484373 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS144484457 ATPAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
RS144484740 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144486006 STAB1 Health Risk Conflicting classifications of pathogenicity —
RS144486241 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS144486582 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS144486598 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS144486825 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder
RS1444869298 TTC5 Health Risk Pathogenic Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
RS1444869565 CDC45 Health Risk Pathogenic —
RS144487288 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS1444877227 TONSL Health Risk Pathogenic —
RS1444891733 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Inborn genetic diseases
RS144490546 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Inborn genetic diseases
RS1444906763 TUBGCP6 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS1444917250 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS144491833 TELO2 Health Risk Conflicting classifications of pathogenicity —
RS144492050 WFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wolfram syndrome 1
RS144492145 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, ZNF469-related disorder
RS1444923772 CTC1 Health Risk Pathogenic Coats plus syndrome, Dyskeratosis congenita
RS144492513 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1444928556 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1444930683 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS144493884 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS144493973 UTP4 Health Risk Conflicting classifications of pathogenicity Hereditary North American Indian childhood cirrhosis, Hereditary North American Indian childhood cirrhosis
RS144494183 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS144494437 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Intellectual disability
RS1444945856 LOXHD1 Health Risk Likely pathogenic —
RS144494809 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Adult-onset citrullinemia type I
RS144495588 CLN8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS144495959 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS144496536 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS144496685 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1444967093 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS144496753 HSPG2 Health Risk Conflicting classifications of pathogenicity HSPG2-related disorder, HSPG2-related disorder
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