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
RS730881984 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS730881986 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS730881990 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS730881991 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS730881992 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS730881994 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS730881999 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Ovarian neoplasm
RS730882000 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Li-Fraumeni syndrome
RS730882001 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS730882002 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS730882004 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS730882005 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS730882006 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS730882007 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ovarian neoplasm
RS730882008 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS730882013 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS730882015 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS730882016 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS730882017 TP53 Health Risk Pathogenic —
RS730882018 TP53 Health Risk Pathogenic Li-fraumeni-like syndrome, Hereditary cancer-predisposing syndrome
RS730882019 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS730882020 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS730882023 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS730882025 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS730882026 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS730882027 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS730882028 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS730882029 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS730882030 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS730882031 VHL Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS730882032 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS730882033 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS730882034 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS730882035 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS730882037 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS730882039 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS730882040 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS730882046 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS730882048 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast carcinoma
RS730882050 ALG14 Health Risk Pathogenic Congenital myasthenic syndrome 15, Congenital myasthenic syndrome 15
RS730882051 ALG2 Health Risk Pathogenic Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14
RS730882052 CASQ1 Health Risk Pathogenic Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload
RS730882054 FOXC1 Health Risk Pathogenic —
RS730882056 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS730882057 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS730882058 PHYH Health Risk Pathogenic REFSUM DISEASE, ADULT
RS730882059 GP1BB Health Risk Pathogenic Bernard-Soulier syndrome, type B
RS730882061 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS730882062 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS730882063 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS730882064 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Nanophthalmia
RS730882065 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia
RS730882066 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS730882067 PRRT2 Health Risk Pathogenic Infantile convulsions and choreoathetosis, Episodic kinesigenic dyskinesia
RS730882068 PRRT2 Health Risk Pathogenic Infantile convulsions and choreoathetosis, Episodic kinesigenic dyskinesia
RS730882073 PRRT2 Health Risk Pathogenic Seizures, benign familial infantile
RS730882076 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS730882078 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS730882080 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS730882081 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS730882082 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS730882085 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS730882086 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS730882089 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS730882090 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS730882094 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS730882096 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS730882098 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS730882099 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS730882100 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS730882102 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS730882103 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS730882105 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS730882107 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS730882108 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS730882109 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS730882110 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS730882116 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS730882118 ITGB6 Health Risk Pathogenic Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
RS730882119 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS730882121 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS730882122 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS730882123 ALG2 Health Risk Pathogenic Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14
RS730882124 PRRT2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS730882127 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS730882130 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS730882131 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS730882133 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS730882134 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS730882135 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS730882136 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS730882139 DNAJB2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS730882140 DNAJB2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS730882141 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS730882142 MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Isolated microphthalmia 5
RS730882143 MFRP Health Risk Pathogenic/Likely pathogenic Isolated microphthalmia 5, Nanophthalmos 2
RS730882145 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS730882148 PRKAG2 Health Risk Pathogenic Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart
RS730882149 NR2E3 Health Risk Pathogenic Retinitis pigmentosa 37, Goldmann-Favre syndrome
RS730882150 KIFBP Health Risk Pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
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