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
RS1562134961 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562137453 ADGRB3 Health Risk Likely pathogenic Short stature, Short stature
RS1562137622 POPDC1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
RS1562140604 EYS Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Retinitis pigmentosa 25
RS1562140771 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1562146029 RFX6 Health Risk Pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS1562148727 TDP2 Health Risk Pathogenic —
RS1562150844 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562154478 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1562156198 RTN4IP1 Health Risk Pathogenic —
RS1562159088 WASF1 Health Risk Pathogenic Intellectual disability, Epileptic encephalopathy
RS1562159562 WASF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental disorder with absent language and variable seizures
RS1562159599 WASF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental disorder with absent language and variable seizures
RS1562163197 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1562163878 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1562164380 CAMK2A Health Risk Likely pathogenic —
RS1562165566 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1562168768 QRSL1 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, mitochondrial
RS1562169661 QRSL1 Health Risk Pathogenic Cardiomyopathy, mitochondrial
RS1562171209 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562173313 QRSL1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, mitochondrial
RS1562177292 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1562189451 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562190751 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1562200866 LAMA2 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1562201376 MYO6 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37
RS1562203136 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1562205351 NSD1 Health Risk Pathogenic —
RS1562206791 NSD1 Health Risk Pathogenic Sotos syndrome, Acute myeloid leukemia
RS1562209222 NSD1 Health Risk Pathogenic —
RS1562212423 NSD1 Health Risk Pathogenic —
RS1562212484 NSD1 Health Risk Pathogenic —
RS1562213291 NSD1 Health Risk Pathogenic —
RS1562213381 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1562213553 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1562217633 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1562217773 PHIP Health Risk Likely pathogenic —
RS1562219266 AHI1 Health Risk Pathogenic —
RS1562220891 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1562221540 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1562223444 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1562224902 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1562242135 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS1562245046 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1562246533 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1562248692 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1562249204 MSH5 Health Risk Pathogenic Non-obstructive azoospermia, Spermatogenic failure 74
RS1562251194 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS1562263385 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1562265336 NSD1 Health Risk Pathogenic —
RS1562269320 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1562271639 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1562273395 LAMA2 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS1562275792 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1562278357 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1562279050 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1562281922 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS1562283089 MYO6 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS1562286077 MYO6 Health Risk Pathogenic —
RS1562292879 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1562292890 NSD1 Health Risk Likely pathogenic —
RS1562293093 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS1562294703 COL12A1 Health Risk Likely pathogenic —
RS1562295135 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1562296511 NSD1 Health Risk Likely pathogenic Sotos syndrome, NSD1-related disorder
RS1562301511 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS1562303235 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS1562305058 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1562305261 COL9A1 Health Risk Likely pathogenic —
RS1562305497 NSD1 Health Risk Pathogenic —
RS1562305653 NSD1 Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1562305920 NSD1 Health Risk Likely pathogenic —
RS1562306948 COL11A2 Health Risk Pathogenic —
RS1562308994 USP45 Health Risk Likely pathogenic Short stature, Short stature
RS1562310723 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1562312238 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1562312539 COL11A2 Health Risk Likely pathogenic —
RS1562315748 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS1562317875 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1562328476 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1562328526 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1562331529 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS1562331655 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1562332833 ARMC2 Health Risk Pathogenic Spermatogenic failure 38, Male infertility with teratozoospermia due to single gene mutation
RS1562336726 COL11A2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 53, Autosomal recessive nonsyndromic hearing loss 53
RS1562345819 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1562347066 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1562347303 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1562350940 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1562352435 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1562354784 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1562355401 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1562356664 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1562358749 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiovascular phenotype
RS1562361751 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1562361762 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1562361837 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1562364898 BACH2 Health Risk Pathogenic Immunodeficiency 60, Immunodeficiency 60
RS1562366625 IMPG1 Health Risk Pathogenic —
RS1562370077 OSTM1 Health Risk Pathogenic Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
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