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
RS1950520565 ZMYND11 Health Risk Pathogenic —
RS1950522365 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS1950522383 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1950523116 KMT2A Health Risk Pathogenic —
RS1950523317 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950537117 MFRP Health Risk Pathogenic Nanophthalmos 2, Nanophthalmos 2
RS1950537152 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1950538709 KMT2A Health Risk Pathogenic —
RS1950539848 KMT2A Health Risk Pathogenic —
RS1950540436 KMT2A Health Risk Pathogenic Intellectual disability, Inborn genetic diseases
RS1950551811 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950553695 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1950562472 KMT2A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1950563032 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1950565228 MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Inborn genetic diseases
RS1950565905 KMT2A Health Risk Pathogenic —
RS1950567837 KMT2A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1950569353 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950576481 KMT2A Health Risk Pathogenic —
RS1950580068 KMT2A Health Risk Pathogenic —
RS1950607117 KMT2A Health Risk Pathogenic —
RS1950618250 ZMYND11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1950619177 FGD4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1950628459 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis
RS1950629763 PAX6 Health Risk Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1950640800 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950740762 MYO7A Health Risk Pathogenic —
RS1950780024 SRPRA Health Risk Pathogenic Shwachman-Diamond syndrome 1, Severe congenital neutropenia
RS1950921220 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS1950922313 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1950967763 TMEM218 Health Risk Pathogenic Joubert syndrome, Joubert syndrome 39
RS1950986906 FOXRED1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 19
RS1950990228 GPD1 Health Risk Pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS1950997931 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1951046310 FOXRED1 Health Risk Pathogenic —
RS1951070330 ZMYND11 Health Risk Likely pathogenic —
RS1951071576 GRAMD1B Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1951072912 CLPB Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS1951082266 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS1951085667 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1951088118 FOXRED1 Health Risk Likely pathogenic —
RS1951100155 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1951102099 FOXRED1 Health Risk Pathogenic —
RS1951120467 FOXRED1 Health Risk Likely pathogenic —
RS1951175181 FOXRED1 Health Risk Pathogenic —
RS1951232337 EHMT1 Health Risk Pathogenic —
RS1951307710 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1951308166 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1951349487 MPDZ Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS1951383421 MPDZ Health Risk Likely pathogenic —
RS1951389692 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1951405479 KRAS Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS1951405809 KRAS Health Risk Likely pathogenic Noonan syndrome 3, Noonan syndrome 3
RS1951414426 OAT Health Risk Likely pathogenic Retinal dystrophy, Ornithine aminotransferase deficiency
RS1951415811 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1951417940 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1951420329 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1951433087 AMOTL1 Health Risk Conflicting classifications of pathogenicity 6 conditions, Craniofaciocardiohepatic syndrome
RS1951451290 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Hyperornithinemia
RS1951458291 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1951463905 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1951465769 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1951466736 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1951467428 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1951546023 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1951631864 TUBA4A Health Risk Likely pathogenic —
RS1951656756 TUBA4A Health Risk Likely pathogenic —
RS1951680623 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1951682627 MYO7A Health Risk Pathogenic —
RS1951683498 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1951686649 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1951753208 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951753726 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1951754581 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951755742 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951757988 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951758601 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951758972 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951764046 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951764875 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951766517 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1951767589 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951767864 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951771573 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1951773909 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1951773957 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1951795080 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS1951805892 CEP295 Health Risk Pathogenic Seckel syndrome 11, Seckel syndrome 11
RS1951812826 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951832349 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951856480 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951857498 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS1951859185 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951868262 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951875500 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951889033 DNAJB2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1951895452 DNAJB2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1951897077 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951900495 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1951905881 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
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