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
RS1762547799 NEU1 Health Risk Pathogenic/Likely pathogenic Sialidosis, Sialidosis
RS1762549789 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1762550387 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Anterior segment dysgenesis 3
RS1762560983 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1762582225 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS1762591034 TUBB2A Health Risk Likely pathogenic —
RS1762593142 TUBB2A Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS1762595316 TUBB2A Health Risk Likely pathogenic —
RS1762604801 TUBB2A Health Risk Pathogenic —
RS1762613802 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1762626709 TUBB2A Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS1762639635 KDM3B Health Risk Pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1762643909 TCOF1 Health Risk Pathogenic —
RS1762648450 SLC12A2 Health Risk Pathogenic Kilquist syndrome, Kilquist syndrome
RS1762648883 SLC12A2 Health Risk Likely pathogenic Profound global developmental delay, Profound global developmental delay
RS1762653550 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS1762659131 SLC34A1 Health Risk Pathogenic —
RS1762684181 RHAG Health Risk Pathogenic —
RS1762684254 HFE Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1762715257 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1762720125 TCERG1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1762806023 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1762806344 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1762807087 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1762812907 APC Health Risk Pathogenic —
RS1762819450 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1762821346 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1762827040 ADGRV1 Health Risk Pathogenic —
RS1762828499 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1762829672 APC Health Risk Pathogenic —
RS1762833218 HFE Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1762844479 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1762855243 APC Health Risk Likely pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS1762865724 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1762893262 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1762922751 DNAH8 Health Risk Pathogenic Spermatogenic failure 46, Spermatogenic failure 46
RS1762930637 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1762964297 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1763003018 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS1763019193 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS1763033823 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763034422 PURA Health Risk Pathogenic —
RS1763036339 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763036938 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763036977 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763038687 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763038797 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763039753 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763041722 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA Syndrome
RS1763043164 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763043820 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763045003 PURA Health Risk Likely pathogenic —
RS1763047232 PURA Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763047286 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763049212 PURA Health Risk Likely pathogenic —
RS1763049807 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763049893 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763052510 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763053171 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763053563 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1763053819 PURA Health Risk Pathogenic —
RS1763053854 PURA Health Risk Pathogenic/Likely pathogenic See cases, PURA Syndrome
RS1763056835 PURA Health Risk Likely pathogenic —
RS1763059235 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS17630660 WDR72 Health Risk Conflicting classifications of pathogenicity Thymoma, Cholangiocarcinoma
RS1763093575 CUL7 Health Risk Pathogenic —
RS1763098947 SOX4 Health Risk Conflicting classifications of pathogenicity —
RS1763106978 BLOC1S5 Health Risk Pathogenic Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome
RS1763112571 SOX4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1763168688 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1763175962 NSD1 Health Risk Pathogenic —
RS1763176914 GEMIN5 Health Risk Likely pathogenic GEMIN5-related disorder, GEMIN5-related disorder
RS1763188622 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1763189862 APC Health Risk Pathogenic —
RS1763190657 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1763200003 H4C3 Health Risk Pathogenic Tessadori-van Haaften neurodevelopmental syndrome 1, HIST1H4C-associated disorder
RS1763204241 NSD1 Health Risk Pathogenic —
RS1763212034 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome
RS1763225156 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1763248340 F12 Health Risk Pathogenic/Likely pathogenic —
RS1763249655 SLC12A2 Health Risk Pathogenic Delpire-McNeill syndrome, Delpire-McNeill syndrome
RS1763249718 NSD1 Health Risk Pathogenic —
RS1763260541 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763290288 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763331046 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1763344725 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1763348882 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS1763352666 GLRA1 Health Risk Likely pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS1763353656 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1763367673 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1763373604 NSD1 Health Risk Pathogenic —
RS1763389239 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1763397145 NSD1 Health Risk Pathogenic —
RS1763397665 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1763406117 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1763415490 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1763437825 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1763453207 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1763459819 GEMIN5 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS1763488906 GEMIN5 Health Risk Likely pathogenic GEMIN5-related disorder, GEMIN5-related disorder
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