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
RS1600158346 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS1600158570 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS1600158650 GAMT Health Risk Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS1600158894 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS1600159342 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS1600163739 SARS2 Health Risk Likely pathogenic SARS2-associated condition, SARS2-associated condition
RS1600167934 PPP2R1A Health Risk Likely pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS1600167941 PPP2R1A Health Risk Likely pathogenic PPP2R1A-related disorder, Houge-Janssens syndrome 2
RS1600169350 IDH3B Health Risk Pathogenic Retinitis pigmentosa 46, Retinitis pigmentosa 46
RS1600170070 BMP2 Health Risk Pathogenic Short stature, facial dysmorphism
RS1600173184 BMP2 Health Risk Pathogenic/Likely pathogenic Short stature, facial dysmorphism
RS1600173481 BMP2 Health Risk Likely pathogenic Short stature, facial dysmorphism
RS1600178720 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600178730 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600179237 JAG1 Health Risk Pathogenic —
RS1600179847 JAG1 Health Risk Pathogenic —
RS1600179855 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600179892 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600180395 CACNA1A Health Risk Pathogenic —
RS1600180457 CACNA1A Health Risk Pathogenic —
RS1600180659 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1600181733 JAG1 Health Risk Likely pathogenic Atypical coarctation of aorta, Atypical coarctation of aorta
RS1600182107 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600182812 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600184363 JAG1 Health Risk Likely pathogenic Atypical coarctation of aorta, Atypical coarctation of aorta
RS1600185499 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1600185804 JAG1 Health Risk Pathogenic —
RS1600186024 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600192503 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS1600196349 JAG1 Health Risk Likely pathogenic —
RS1600196426 JAG1 Health Risk Likely pathogenic —
RS1600196443 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600196580 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1600198365 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1600198481 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1600208852 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1600242882 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1600244935 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS1600271575 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1600272344 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1600273534 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1600274038 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1600275237 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1600277713 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1600278094 PLCB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1600278307 SMARCA4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 16
RS1600281886 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS1600285757 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1600288964 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS1600290109 TCF4 Health Risk Pathogenic —
RS1600292507 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1600292598 CACNA1A Health Risk Likely pathogenic Febrile seizure, Febrile seizure
RS1600293149 CACNA1A Health Risk Pathogenic —
RS1600300837 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, SMARCA4-related disorder
RS1600301361 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1600305570 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1600313212 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1600324262 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600324442 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600328992 TBC1D20 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1600334904 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600335148 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1600335289 PRPF31;PRPF31-AS1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 11
RS1600335765 SMARCA4 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600337143 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1600337158 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600340117 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1600341902 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600341931 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600342032 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600342050 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600344451 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1600350656 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600353301 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1600355373 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600355502 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600356790 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1600360338 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600360654 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1600360827 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1600363764 CST3 Health Risk Conflicting classifications of pathogenicity CST3-related Leukodystrophy, Hereditary cerebral amyloid angiopathy
RS1600364712 SCN1B Health Risk Pathogenic Developmental and epileptic encephalopathy, 52
RS1600365455 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1600370558 SCN1B Health Risk Pathogenic Developmental and epileptic encephalopathy, 52
RS1600388982 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS1600389034 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600392059 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS1600393629 SMARCA4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 16
RS1600394125 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600394490 SAMHD1 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1600398069 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600404016 TCF4 Health Risk Pathogenic —
RS1600404795 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Corneal dystrophy
RS1600405252 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1600406856 TNFRSF11A Health Risk Likely pathogenic —
RS1600407324 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1600409143 THBD Health Risk Likely pathogenic Abnormal bleeding, Thrombocytopenia
RS1600409323 THBD Health Risk Likely pathogenic Abnormal bleeding, Thrombomodulin-related bleeding disorder
RS1600410451 THBD Health Risk Conflicting classifications of pathogenicity Abnormal thrombosis, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
RS1600414549 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
« Prev 1 ... 1136 1137 1138 1139 1140 1141 1142 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →