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
RS2147678827 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147678860 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147681264 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147681381 PRPS1 Health Risk Likely pathogenic Arts syndrome, Arts syndrome
RS2147681484 PRPS1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147681619 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147682409 PRPS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked recessive 5
RS2147683334 JAK3 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2147684782 PRPS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Arts syndrome
RS2147684810 PRPS1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147686036 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147686196 OGT Health Risk Likely pathogenic —
RS2147687373 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147690107 BRWD3 Health Risk Pathogenic —
RS2147691056 DOCK6 Health Risk Likely pathogenic —
RS2147691124 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147692665 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147693460 BRWD3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 93
RS2147706381 CHM Health Risk Pathogenic —
RS2147706405 CHM Health Risk Pathogenic —
RS2147706541 CHM Health Risk Pathogenic —
RS2147706580 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2147712442 CHM Health Risk Pathogenic —
RS2147714706 PIGA Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGA-related disorder
RS2147717286 PIGA Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Paroxysmal nocturnal hemoglobinuria
RS2147722151 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147722166 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147722497 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147722687 LARGE1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2147723740 PIGA Health Risk Pathogenic Neurodevelopmental disorder with epilepsy and hemochromatosis, Neurodevelopmental disorder with epilepsy and hemochromatosis
RS2147723760 PIGA Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS2147723922 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS2147724073 PIGA Health Risk Likely pathogenic Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1
RS2147727146 GCNA Health Risk Likely pathogenic Non-obstructive azoospermia, Spermatogenic failure
RS2147727488 PIGA Health Risk Likely pathogenic —
RS2147728009 GCNA Health Risk Pathogenic Spermatogenic failure, X-linked
RS2147729149 GCNA Health Risk Pathogenic Non-obstructive azoospermia, Spermatogenic failure
RS2147732931 GCNA Health Risk Pathogenic Azoospermia, Spermatogenic failure
RS2147733170 KANSL1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147734937 KIAA0930 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147734941 KIAA0930 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147734951 KIAA0930 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147736023 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2147738058 ATRX Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonic facies syndrome, X-linked
RS2147739739 KANSL1 Health Risk Pathogenic —
RS2147741933 KANSL1 Health Risk Pathogenic —
RS2147744889 TEX11 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2147746087 COL4A5 Health Risk Likely pathogenic —
RS2147746137 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2147746303 COL4A5 Health Risk Pathogenic/Likely pathogenic COL4A5-related disorder, X-linked Alport syndrome
RS2147746317 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147746685 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147746687 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147746709 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147746826 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147747293 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, Nonpapillary renal cell carcinoma
RS2147747375 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147747509 IL2RG Health Risk Pathogenic/Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147747770 PHKA1 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2147748109 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147748142 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147748189 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147748344 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147748363 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147748812 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS2147749450 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2147749507 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2147749578 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147749701 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147750252 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147750291 IL2RG Health Risk Likely pathogenic —
RS2147750311 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147750359 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147750382 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147750927 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147750934 IL2RG Health Risk Pathogenic —
RS2147751090 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147751144 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147751146 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147751760 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147751762 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147751859 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, Combined immunodeficiency
RS2147751877 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147751892 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS2147752783 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS2147753069 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2147753555 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2147753630 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS2147753741 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS2147753780 COL4A5 Health Risk Likely pathogenic —
RS2147753910 COL4A5 Health Risk Likely pathogenic —
RS2147753940 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147754958 COL4A5 Health Risk Likely pathogenic —
RS2147754967 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Nonpapillary renal cell carcinoma
RS2147755024 DMD Health Risk Pathogenic —
RS2147755143 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2147755217 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147755986 BRWD3 Health Risk Likely pathogenic Intellectual disability, X-linked 93
RS2147759174 COL4A5 Health Risk Pathogenic —
RS2147759208 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
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