SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS121918094 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918095 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS121918096 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918097 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918098 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS121918099 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918100 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS121918103 PSAP Health Risk Pathogenic/Likely pathogenic Sphingolipid activator protein 1 deficiency, Inborn genetic diseases
RS121918104 PSAP Health Risk Pathogenic/Likely pathogenic Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS121918105 PSAP Health Risk Pathogenic Gaucher disease due to saposin C deficiency, Gaucher disease due to saposin C deficiency
RS121918106 PSAP Health Risk Pathogenic Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
RS121918107 PSAP Health Risk Pathogenic/Likely pathogenic Sphingolipid activator protein 1 deficiency, PSAP-related disorder
RS121918108 PSAP Health Risk Pathogenic Gaucher disease due to saposin C deficiency, Gaucher disease due to saposin C deficiency
RS121918109 PSAP Health Risk Pathogenic Gaucher disease due to saposin C deficiency, Gaucher disease due to saposin C deficiency
RS121918110 PSAP Health Risk Likely pathogenic Gaucher disease due to saposin C deficiency, Metachromatic leukodystrophy
RS121918111 POMC Health Risk Pathogenic Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency
RS121918112 POMC Health Risk Pathogenic Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency
RS121918113 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS121918114 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS121918115 ATP2A1 Health Risk Likely pathogenic Brody myopathy, Brody myopathy
RS121918116 EPOR Health Risk Pathogenic Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS121918117 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS121918118 GHRHR Health Risk Pathogenic/Likely pathogenic Isolated growth hormone deficiency, type 4
RS121918119 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS121918120 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS121918121 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS121918122 HRG Health Risk Pathogenic Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
RS121918123 TAC3 Health Risk Pathogenic HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
RS121918124 TACR3 Health Risk Pathogenic Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
RS121918125 TACR3 Health Risk Pathogenic Hypogonadotropic hypogonadism 11 with or without anosmia, Absence of pubertal development
RS121918126 SLC6A2 Health Risk Pathogenic Neurocirculatory asthenia, Neurocirculatory asthenia
RS121918127 INPP5E Health Risk Pathogenic MORM syndrome, Joubert syndrome 1
RS121918128 INPP5E Health Risk Likely pathogenic Joubert syndrome 1, Joubert syndrome and related disorders
RS121918129 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome 1, Joubert syndrome
RS121918130 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome 1, Joubert syndrome
RS121918131 KNG1 Health Risk Pathogenic KININOGEN DEFICIENCY, TOTAL
RS121918132 BCAM Health Risk Pathogenic BLOOD GROUP--LUTHERAN NULL, BLOOD GROUP--LUTHERAN NULL
RS121918133 BCAM Health Risk Pathogenic BLOOD GROUP--LUTHERAN NULL, BLOOD GROUP--LUTHERAN NULL
RS121918134 NDUFAF3 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 18
RS121918135 NDUFAF3 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 18
RS121918136 NDUFAF3 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 18
RS121918137 RNASET2 Health Risk Pathogenic Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS121918138 IYD Health Risk Likely pathogenic Iodotyrosine deiodination defect, IYD-related disorder
RS121918139 IYD Health Risk Likely pathogenic Iodotyrosine deiodination defect, Iodotyrosine deiodination defect
RS121918140 IYD Health Risk Pathogenic/Likely pathogenic Iodotyrosine deiodination defect, Iodotyrosine deiodination defect
RS121918141 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918142 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918143 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918144 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918145 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918146 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918147 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918148 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918149 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918150 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal recessive
RS121918151 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918152 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918153 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918154 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918155 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918156 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal recessive
RS121918157 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal recessive
RS121918158 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918159 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918160 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS121918163 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS121918164 FANCI;POLG Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS121918165 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Inborn genetic diseases
RS121918166 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Inborn genetic diseases
RS121918167 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS121918168 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS121918169 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS121918170 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS121918172 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918173 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Non-immune hydrops fetalis
RS121918174 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918175 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918176 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918177 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918179 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918180 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918181 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 6
RS121918182 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918183 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS121918184 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, GUSB-related disorder
RS121918185 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Non-immune hydrops fetalis
RS121918188 FBP1 Health Risk Pathogenic/Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS121918189 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS121918190 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS121918191 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS121918192 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS121918193 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS121918195 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS121918196 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS121918197 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, RPGRIP1L-related disorder
RS121918198 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, Joubert syndrome
RS121918199 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, Joubert syndrome
RS121918200 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome 7, Joubert syndrome
RS121918201 RPGRIP1L Health Risk Pathogenic Meckel syndrome, type 5
RS121918202 RPGRIP1L Health Risk Pathogenic Meckel syndrome, type 5
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