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
RS2140115541 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS2140117236 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140119519 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS2140122536 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140122597 TTLL5 Health Risk Pathogenic —
RS2140122641 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2140122670 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140122740 TMEM63C Health Risk Pathogenic Spastic paraplegia 87, autosomal recessive
RS2140123124 DICER1 Health Risk Pathogenic —
RS2140123302 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140124358 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2140124458 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140125178 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140126563 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2140127010 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS2140127042 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS2140127157 GCH1 Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
RS2140127185 TMEM63C Health Risk Pathogenic Spastic paraplegia 87, autosomal recessive
RS2140127251 GCH1 Health Risk Pathogenic —
RS2140127278 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2140127425 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS2140127551 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS2140127822 GCH1 Health Risk Pathogenic Dystonia 5, Dystonia 5
RS2140128017 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2140128191 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2140129581 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS2140129677 TMEM63C Health Risk Pathogenic Spastic paraplegia 87, autosomal recessive
RS2140130724 TMEM63C Health Risk Pathogenic Spastic paraplegia 87, autosomal recessive
RS2140131376 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS2140132816 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2140132909 NALCN Health Risk Likely pathogenic —
RS2140132954 NALCN Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2140138107 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2140138146 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS2140138203 ATP11A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS2140138808 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140138974 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140141345 RDH12 Health Risk Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 13
RS2140142183 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS2140145138 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2140145142 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2140145266 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2140145502 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS2140145565 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS2140145566 RDH12 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS2140145599 RDH12 Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Leber congenital amaurosis 13
RS2140150119 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140151036 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2140155252 TTLL5 Health Risk Likely pathogenic —
RS2140156819 NALCN Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2140159183 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2140159358 KIF5A Health Risk Likely pathogenic —
RS2140159368 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2140161227 KIF5A Health Risk Likely pathogenic —
RS2140161563 KIF5A Health Risk Likely pathogenic —
RS2140161617 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2140161850 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2140162237 POMT2 Health Risk Pathogenic —
RS2140162488 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Retinitis pigmentosa
RS2140162541 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2140162576 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS2140162581 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2140162883 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2140163000 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS2140167500 KIF5A Health Risk Pathogenic —
RS2140169285 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2140172189 KIF5A Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2140181246 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140183172 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2140184247 PPIB Health Risk Likely pathogenic —
RS2140184412 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS2140185342 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2140185372 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140185423 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140185428 ZFYVE26 Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
RS2140185555 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS2140185593 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2140188352 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2140188685 SMAD3 Health Risk Pathogenic/Likely pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2140188825 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140188838 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS2140188891 SMAD3 Health Risk Likely pathogenic Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm
RS2140189193 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS2140192941 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS2140192948 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2140193931 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140194241 ZFYVE26 Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
RS2140194701 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140199019 GABRB3 Health Risk Pathogenic —
RS2140199204 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140199396 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140199533 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140199559 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140199587 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS2140200556 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140201228 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2140201330 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140201355 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140201554 PPFIBP1 Health Risk Pathogenic Microcephaly, Severe intellectual disability
RS2140201750 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
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