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
RS2514644127 DLL3 Health Risk Pathogenic —
RS2514644148 CNOT3 Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, autism
RS2514644262 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2514646442 DLL3 Health Risk Pathogenic —
RS2514646544 SLC5A5 Health Risk Pathogenic —
RS2514646705 SLC5A5 Health Risk Pathogenic —
RS2514646860 DLL3 Health Risk Pathogenic —
RS2514647017 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS2514647160 CSNK2A1 Health Risk Pathogenic —
RS2514649158 DLL3 Health Risk Pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS2514649349 DLL3 Health Risk Pathogenic —
RS2514649574 DLL3 Health Risk Pathogenic —
RS2514651982 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514652531 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514654539 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS2514654709 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514662565 CSNK2A1 Health Risk Likely pathogenic —
RS2514672757 CSNK2A1 Health Risk Pathogenic —
RS2514672851 CSNK2A1 Health Risk Pathogenic/Likely pathogenic Okur-Chung neurodevelopmental syndrome, Intellectual disability
RS2514672857 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS2514673013 CSNK2A1 Health Risk Pathogenic —
RS2514673677 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514674151 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514674870 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514677222 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514677532 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514678035 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514678371 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS2514679695 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514679850 CSNK2A1 Health Risk Likely pathogenic —
RS2514680874 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514680973 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514681064 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514681321 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514682048 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514682490 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS2514689974 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514694950 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514697058 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514697373 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514699870 NKX2-2 Health Risk Likely pathogenic —
RS2514701114 FERMT1 Health Risk Likely pathogenic —
RS2514703437 FERMT1 Health Risk Pathogenic —
RS2514706791 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514723064 FERMT1 Health Risk Pathogenic —
RS2514723164 FERMT1 Health Risk Pathogenic —
RS2514729323 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS2514730089 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514731335 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS2514731343 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS2514732396 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS2514732447 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS2514732927 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS2514738228 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2514738308 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514740325 RYR1 Health Risk Likely pathogenic —
RS2514746358 CACNA1C Health Risk Likely pathogenic Timothy syndrome, Timothy syndrome
RS2514748395 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514748917 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS2514752302 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS2514753529 CACNA1C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2514759456 IDH3B Health Risk Pathogenic —
RS2514760524 IDH3B Health Risk Likely pathogenic —
RS2514769253 IDH3B Health Risk Likely pathogenic —
RS2514778854 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514779743 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514782731 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2514783845 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2514785213 SNAP25 Health Risk Likely pathogenic Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
RS2514799008 PAX1 Health Risk Pathogenic —
RS2514799393 PAX1 Health Risk Pathogenic —
RS2514799744 PAX1 Health Risk Pathogenic —
RS2514799919 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514800211 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514800557 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514803170 PRX Health Risk Likely pathogenic —
RS2514803553 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514803711 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514804225 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514804861 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514806102 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514806399 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514807382 PRX Health Risk Likely pathogenic PRX-related disorder, PRX-related disorder
RS2514810724 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514813303 FOXA2 Health Risk Likely pathogenic Congenital syndromic hypopituitarism, Congenital syndromic hypopituitarism
RS2514817991 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2514828064 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2514833199 SNAP25 Health Risk Likely pathogenic Presynaptic congenital myasthenic syndrome, Presynaptic congenital myasthenic syndrome
RS2514836751 KIZ Health Risk Likely pathogenic —
RS2514848897 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS2514849071 SLC52A3 Health Risk Likely pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS2514849190 SLC52A3 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2514853132 SNAP25 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 18, Inborn genetic diseases
RS2514853298 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2514853315 SNAP25 Health Risk Likely pathogenic Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
RS2514853352 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS2514853451 SNAP25 Health Risk Pathogenic Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
RS2514853517 SNAP25 Health Risk Likely pathogenic Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
RS2514853554 SNAP25 Health Risk Likely pathogenic Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
RS2514854877 RIN2 Health Risk Pathogenic —
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