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
RS2502857225 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502857481 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502858134 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502858270 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502866519 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2502866799 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502866864 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS2502866869 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502866902 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502867141 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502867213 KCNH5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2502867311 KCNH5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 112, Developmental and epileptic encephalopathy 112
RS2502871382 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502871528 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502871648 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502871862 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502873559 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502873811 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502874707 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502874717 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502874810 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502876816 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502877151 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502880316 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502880553 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502880827 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502881195 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502881282 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502881409 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502881665 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502884344 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502893658 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502893670 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502893829 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502897683 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502897758 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502898182 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2502898338 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2502921178 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Acne inversa
RS2502941276 PSEN1 Health Risk Pathogenic Acne inversa, familial
RS2502950630 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS2502957637 COQ6 Health Risk Pathogenic —
RS2502958678 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Alzheimer disease 3
RS2502975834 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2502976776 SPTB Health Risk Likely pathogenic SPTB-related disorder, SPTB-related disorder
RS2502979421 CACNA1C Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2502980435 CACNA1C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2502980632 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2502981099 ZMYM2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2502981606 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS2502982456 CACNA1C Health Risk Likely pathogenic Timothy syndrome, Timothy syndrome
RS2502984916 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2502985399 COQ6 Health Risk Pathogenic —
RS2502985467 ZMYM2 Health Risk Pathogenic —
RS2502986210 CACNA1C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2502989298 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome 9
RS2502991901 SOS2 Health Risk Pathogenic Noonan syndrome 9, Noonan syndrome 9
RS2503004399 EIF2B2 Health Risk Pathogenic —
RS2503004516 EIF2B2 Health Risk Likely pathogenic —
RS2503006016 EIF2B2 Health Risk Pathogenic —
RS2503006105 EIF2B2 Health Risk Pathogenic —
RS2503007932 EIF2B2 Health Risk Pathogenic —
RS2503009266 TTLL5 Health Risk Pathogenic —
RS2503011630 EIF2B2 Health Risk Pathogenic —
RS2503011638 EIF2B2 Health Risk Pathogenic —
RS2503015880 PPP2R3C Health Risk Pathogenic Gonadal dysgenesis, dysmorphic facies
RS2503019280 COQ6 Health Risk Pathogenic —
RS2503021993 SLC10A1 Health Risk Likely pathogenic Hypercholanemia, familial
RS2503023443 TGFB3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2503023741 TGFB3 Health Risk Likely pathogenic TGFB3-related disorder, TGFB3-related disorder
RS2503023856 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2503023915 TGFB3 Health Risk Likely pathogenic TGFB3-related disorder, TGFB3-related disorder
RS2503024114 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS2503025907 SUPT16H Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
RS2503026566 PSEN1 Health Risk Likely pathogenic PSEN1-related disorder, PSEN1-related disorder
RS2503028730 SLC10A1 Health Risk Likely pathogenic SLC10A1-related disorder, SLC10A1-related disorder
RS2503032230 SPTB Health Risk Likely pathogenic —
RS2503032382 SPTB Health Risk Likely pathogenic —
RS2503032646 SPTB Health Risk Likely pathogenic —
RS2503032968 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503033097 SPTB Health Risk Pathogenic —
RS2503033713 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Alzheimer disease 3
RS2503038400 SPTB Health Risk Likely pathogenic —
RS2503038494 SPTB Health Risk Likely pathogenic —
RS2503038679 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503038703 SPTB Health Risk Likely pathogenic —
RS2503038789 SPTB Health Risk Likely pathogenic —
RS2503040034 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503041151 F7 Health Risk Likely pathogenic —
RS2503041775 SPTB Health Risk Pathogenic —
RS2503041917 SPTB Health Risk Likely pathogenic —
RS2503042047 NBEA Health Risk Likely pathogenic —
RS2503042184 SPTB Health Risk Pathogenic/Likely pathogenic SPTB-related disorder, SPTB-related disorder
RS2503042194 SPTB Health Risk Likely pathogenic —
RS2503042524 SPTB Health Risk Pathogenic —
RS2503044340 KCNH5 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2503047629 SPTB Health Risk Pathogenic —
RS2503047636 SPTB Health Risk Pathogenic —
RS2503047710 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503048077 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
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