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
RS1581373693 FOXC1 Health Risk Likely pathogenic —
RS1581373773 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1581373871 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1581373890 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1581374640 FOXC1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS1581392920 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1581401865 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1581407682 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581408152 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581409051 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1581411423 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1581411478 NSD1 Health Risk Pathogenic —
RS1581429339 H1-4 Health Risk Pathogenic —
RS1581429395 H1-4 Health Risk Conflicting classifications of pathogenicity Rahman syndrome, Inborn genetic diseases
RS1581429403 H1-4 Health Risk Pathogenic/Likely pathogenic Rahman syndrome, Inborn genetic diseases
RS1581429431 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS1581429434 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS1581429447 H1-4 Health Risk Pathogenic —
RS1581429485 H1-4 Health Risk Pathogenic —
RS1581429514 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS1581429554 H1-4 Health Risk Pathogenic/Likely pathogenic Rahman syndrome, Neurodevelopmental disorder
RS1581429903 NSD1 Health Risk Likely pathogenic —
RS1581433729 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1581439874 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1581453572 GABRG2 Health Risk Pathogenic/Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1581453822 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1581457332 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS1581468355 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581491984 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581495906 H2AC17 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1581496351 TUBB2A Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS1581497515 NSD1 Health Risk Pathogenic —
RS1581497686 NSD1 Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1581497997 NSD1 Health Risk Pathogenic —
RS1581499166 TUBB2A Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS1581504953 HARS1 Health Risk Pathogenic 11 conditions, Spastic ataxia
RS1581505917 HARS1 Health Risk Pathogenic 10 conditions, Spastic ataxia
RS1581525683 TUBB2B Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS1581525728 TUBB2B Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Inborn genetic diseases
RS1581525766 TUBB2B Health Risk Likely pathogenic —
RS1581526962 TUBB2B Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Inborn genetic diseases
RS1581527566 NSD1 Health Risk Pathogenic —
RS1581527842 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581527915 NSD1 Health Risk Pathogenic —
RS1581531492 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS1581535570 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS1581535605 NSD1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1581536078 HARS2 Health Risk Likely pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS1581548112 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1581550832 HARS2 Health Risk Likely pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS1581558015 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581562963 NSD1 Health Risk Likely pathogenic —
RS1581563059 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS1581571813 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1581571901 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1581573640 CTLA4 Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1581573705 CTLA4 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1581573923 CTLA4 Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1581573970 CTLA4 Health Risk Pathogenic Celiac disease, susceptibility to
RS1581595267 ERGIC1 Health Risk Likely pathogenic Flexion contracture, Flexion contracture
RS1581616817 FLT4 Health Risk Pathogenic Congenital heart defects, multiple types
RS1581620729 GLRA1 Health Risk Likely pathogenic Hyperekplexia 1, Hyperekplexia 1
RS1581623798 GLRA1 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS1581623910 GLRA1 Health Risk Likely pathogenic Hereditary hyperekplexia, Hyperekplexia 1
RS1581634382 SLC34A1 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1581640646 DCDC2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS1581645142 GLRA1 Health Risk Likely pathogenic Hyperekplexia 1, Hyperekplexia 1
RS1581645904 VARS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, seizures
RS1581655293 FLT4 Health Risk Pathogenic Congenital heart defects, multiple types
RS1581668624 TUBB Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS1581696489 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1581696699 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1581697849 MAK Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581711527 ADGRV1 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1581711551 ADGRV1 Health Risk Pathogenic —
RS1581718297 CNPY3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 60
RS1581726525 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1581727126 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581727260 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1581734819 TULP1 Health Risk Pathogenic Retinitis pigmentosa 14, Leber congenital amaurosis 15
RS1581735836 TULP1 Health Risk Pathogenic Leber congenital amaurosis, Retinal dystrophy
RS1581736024 TULP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 15
RS1581736099 TULP1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1581738478 TULP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581740762 TULP1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1581742615 TULP1 Health Risk Pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS1581742633 TULP1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1581742970 TULP1 Health Risk Pathogenic Retinitis pigmentosa 14, Retinal dystrophy
RS1581743256 TULP1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1581744084 TULP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581760028 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1581760572 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS1581763359 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1581777867 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1581792793 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1581792832 DSP Health Risk Likely pathogenic —
RS1581794029 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1581799453 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1581799477 DSP Health Risk Likely pathogenic —
RS1581800307 DSP Health Risk Likely pathogenic —
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