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
RS150590027 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS150590855 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS150591206 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS150591260 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS150592488 CFAP418 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 16, Retinitis pigmentosa
RS150593522 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS150593655 STAMBP Health Risk Likely pathogenic STAMBP-related disorder, STAMBP-related disorder
RS150593932 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS150595411 DNAJC12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150595667 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS150596964 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS150596993 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS150597050 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS150597413 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS150598413 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS150598773 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150599325 CDH15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Neurofibromatosis
RS150599652 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150600286 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS150601238 UCHL1 Health Risk Conflicting classifications of pathogenicity Parkinson disease 5, autosomal dominant
RS150601728 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS150602021 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS150602845 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS150603624 HIRA Health Risk Conflicting classifications of pathogenicity —
RS150603941 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS150604289 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150606321 TEX15 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Non-obstructive azoospermia
RS150606453 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS150607307 TACO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS150607375 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS150607556 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS150607716 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS150607879 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SPTBN2-related disorder
RS150608071 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150608549 FXYD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150609056 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS150610444 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS150610657 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS150613209 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS150613320 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial complex I deficiency
RS150614630 DSG4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150614794 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-related disorder
RS150617078 UBR1 Health Risk Conflicting classifications of pathogenicity Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS150617429 EIF2B2 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, EIF2B2-related disorder
RS150617550 DVL1 Health Risk Conflicting classifications of pathogenicity —
RS150618729 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS150618811 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150619347 ARV1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 38
RS150619709 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS150622293 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS150622626 PYGM Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Glycogen storage disease
RS150623081 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, Inborn genetic diseases
RS150624399 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150624408 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS150626228 BOLA3 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder
RS150626749 KCNK3 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS150627172 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS150629342 RSPH1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 24
RS150629598 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS150629697 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS150629840 CCAR2 Health Risk Conflicting classifications of pathogenicity —
RS150630090 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS150630318 WDR11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150630640 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS150631268 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS150631550 ABCC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS150631940 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS150632241 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS150633177 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS150633775 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Central core myopathy
RS150634562 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS150635097 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS150636017 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS150636501 RLBP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Pigmentary retinal dystrophy
RS150636811 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS150637770 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS150637771 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, TCOF1-related disorder
RS150637898 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS150638029 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS150638770 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS150639035 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS150639487 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS150640353 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS150640883 SOST Health Risk Conflicting classifications of pathogenicity Sclerosteosis 1, Sclerosteosis 1
RS150642468 ASPM Health Risk Conflicting classifications of pathogenicity —
RS150642676 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS150642856 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS150642992 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS150643803 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS150644209 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS150644405 FLG Health Risk Pathogenic —
RS150645079 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS150645228 FLVCR1 Health Risk Conflicting classifications of pathogenicity —
RS150645662 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS150645738 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS150646039 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS150646107 BCAT2 Health Risk Conflicting classifications of pathogenicity —
RS150646335 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS150646872 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS150647141 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
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