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
RS121908830 TMEM127 Health Risk Pathogenic/Likely pathogenic Pheochromocytoma, susceptibility to
RS121908831 TMEM127 Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma
RS121908832 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS121908833 YARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease
RS121908834 YARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease
RS121908835 TP63 Health Risk Pathogenic Ectrodactyly, ectodermal dysplasia
RS121908836 TP63 Health Risk Pathogenic/Likely pathogenic Ectrodactyly, ectodermal dysplasia
RS121908837 TP63 Health Risk Pathogenic Ectrodactyly, ectodermal dysplasia
RS121908838 TP63 Health Risk Pathogenic Split hand-foot malformation 4, Split hand-foot malformation 4
RS121908839 TP63 Health Risk Pathogenic Split hand-foot malformation 4, TP63-Related Spectrum Disorders
RS121908840 TP63 Health Risk Pathogenic/Likely pathogenic Rapp-Hodgkin syndrome, Ectrodactyly
RS121908841 TP63 Health Risk Pathogenic/Likely pathogenic Ectrodactyly, ectodermal dysplasia
RS121908842 TP63 Health Risk Pathogenic Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
RS121908843 TP63 Health Risk Likely pathogenic Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, TP63-Related Spectrum Disorders
RS121908844 TP63 Health Risk Pathogenic Ectrodactyly, ectodermal dysplasia
RS121908845 TP63 Health Risk Pathogenic Rapp-Hodgkin syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
RS121908846 TP63 Health Risk Pathogenic Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS121908849 TP63 Health Risk Likely pathogenic ADULT syndrome, Ectrodactyly
RS121908853 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS121908854 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, CILIARY DYSKINESIA
RS121908855 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS121908856 SLC4A4 Health Risk Pathogenic Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS121908857 SLC4A4 Health Risk Pathogenic Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS121908858 SLC4A4 Health Risk Pathogenic Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS121908859 TSHR Health Risk Pathogenic Thyroid adenoma, hyperfunctioning
RS121908860 TSHR Health Risk Pathogenic Thyroid adenoma, hyperfunctioning
RS121908861 TSHR Health Risk Likely pathogenic Thyroid adenoma, hyperfunctioning
RS121908862 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS121908863 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS121908864 TSHR Health Risk Likely pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Familial hyperthyroidism due to mutations in TSH receptor
RS121908865 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS121908866 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Inborn genetic diseases
RS121908867 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS121908869 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Epilepsy
RS121908870 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS121908871 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS121908872 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Inborn genetic diseases
RS121908873 TSHR Health Risk Pathogenic Thyroid adenoma, hyperfunctioning
RS121908874 TSHR Health Risk Pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Familial hyperthyroidism due to mutations in TSH receptor
RS121908875 TSHR Health Risk Pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Familial hyperthyroidism due to mutations in TSH receptor
RS121908876 TSHR Health Risk Likely pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Familial hyperthyroidism due to mutations in TSH receptor
RS121908877 TSHR Health Risk Pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Thyroid adenoma
RS121908879 TSHR Health Risk Pathogenic Familial gestational hyperthyroidism, Familial gestational hyperthyroidism
RS121908880 TSHR Health Risk Pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Familial hyperthyroidism due to mutations in TSH receptor
RS121908881 TSHR Health Risk Likely pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS121908882 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS121908883 TSHR Health Risk Pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Familial hyperthyroidism due to mutations in TSH receptor
RS121908884 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS121908885 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS121908886 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, SLC22A5-related disorder
RS121908887 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS121908888 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS121908889 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Ovarian serous cystadenocarcinoma
RS121908890 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS121908891 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS121908892 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS121908893 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS121908894 FLNB Health Risk Pathogenic Atelosteogenesis type I, Atelosteogenesis type I
RS121908895 FLNB Health Risk Pathogenic Atelosteogenesis type I, Atelosteogenesis type III
RS121908896 FLNB Health Risk Pathogenic Boomerang dysplasia, Boomerang dysplasia
RS121908897 FLNB Health Risk Pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS121908898 FLNB Health Risk Pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS121908900 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS121908901 CCN6 Health Risk Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia, See cases
RS121908902 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS121908903 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS121908904 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS121908905 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS121908906 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS121908907 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS121908908 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS121908909 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS121908910 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus
RS121908911 SCN9A Health Risk Pathogenic Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder
RS121908912 SCN9A Health Risk Pathogenic Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder
RS121908913 SCN9A Health Risk Likely pathogenic Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus
RS121908914 SCN9A Health Risk Likely pathogenic Paroxysmal extreme pain disorder, Neuropathy
RS121908915 SCN9A Health Risk Pathogenic Paroxysmal extreme pain disorder, Generalized epilepsy with febrile seizures plus
RS121908916 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS121908917 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS121908918 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS121908922 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS121908923 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Slow-Channel Congenital Myasthenia Syndrome
RS121908924 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Synaptic congenital myasthenic syndromes
RS121908925 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS121908926 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS121908927 COCH Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS121908928 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS121908929 COCH Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 9, Hereditary hearing loss and deafness
RS121908930 COCH Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS121908932 COCH Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 9, Rare genetic deafness
RS121908934 COCH Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS121908935 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS121908936 LCT Health Risk Pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS121908937 LCT Health Risk Pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS121908938 BFSP2 Health Risk Pathogenic Cataract 12 multiple types, BFSP2-related disorder
RS121908939 DNMT3B Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
RS121908940 DNMT3B Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS121908941 DNMT3B Health Risk Pathogenic/Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS121908942 DNMT3B Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
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