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
RS776247728 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS776248221 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS776248931 PNPO Health Risk Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures, Inborn genetic diseases
RS776250086 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS776251084 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS776251206 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS776252106 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS776253867 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS776254500 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS776254819 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS776255327 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS776256093 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776256380 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS776257226 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776257401 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS77625743 ZFP57 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS776260027 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776260288 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS776260543 RLBP1 Health Risk Pathogenic Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy
RS776261110 SPTBN5 Health Risk Conflicting classifications of pathogenicity —
RS77626160 DSTYK Health Risk Conflicting classifications of pathogenicity Congenital anomalies of kidney and urinary tract 1, Hereditary spastic paraplegia 23
RS776262284 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS776262419 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS776262883 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776263154 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS776263190 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776264072 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS776264264 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS776265864 TTN Health Risk Conflicting classifications of pathogenicity —
RS776266049 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS776267308 TMC1 Health Risk Pathogenic —
RS776267465 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS776267945 GJB2 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS776268518 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS776268964 WHRN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 31, Autosomal recessive nonsyndromic hearing loss 31
RS776269505 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS776269575 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS776270090 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS776270511 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Enhanced S-cone syndrome
RS776271026 CEP78 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS776271778 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS776271846 CEP135 Health Risk Conflicting classifications of pathogenicity —
RS776272149 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776272431 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776272750 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type I
RS776274768 ROS1 Health Risk Pathogenic Short stature, Short stature
RS776275363 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS776275610 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Kidney disorder
RS776275777 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS776278152 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS776278453 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS776279074 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS776280797 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS776280813 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS776281864 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS776284609 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS776284920 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Pulmonary hypertension
RS776284924 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS77628498 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS776285112 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS776286022 MSH3 Health Risk Pathogenic —
RS776286311 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS776287219 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS776287966 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS776288377 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS776288515 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS776288769 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS776289036 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS776289194 FLG Health Risk Pathogenic —
RS776289358 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS776289402 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 6, Retinal dystrophy
RS776290743 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Schimke immuno-osseous dysplasia
RS776290829 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS776291104 MED25 Health Risk Conflicting classifications of pathogenicity Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease
RS776292592 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776292672 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS776293311 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS776293648 SPINK5 Health Risk Pathogenic/Likely pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS776294736 TLR6 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS776294856 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS776296772 SLC12A3 Health Risk Conflicting classifications of pathogenicity —
RS776297241 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS776297606 CD2AP Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 3, susceptibility to
RS776298636 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS776298973 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776299348 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776299562 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS776299636 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schimke immuno-osseous dysplasia
RS776299767 KDM5B Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS776300396 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS776300442 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Short-rib thoracic dysplasia 8 with or without polydactyly
RS776301212 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS776301232 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS776301372 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776302141 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adams-Oliver syndrome 2
RS776302587 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS776303176 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS776305028 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS776306054 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS776306424 NUP54 Health Risk Pathogenic Dystonia 37, early-onset
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