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
RS1554190322 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1554191298 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554191995 MARCKS Health Risk Likely pathogenic —
RS1554192525 TBC1D7 Health Risk Conflicting classifications of pathogenicity Macrocephaly, Macrocephaly
RS1554192923 COL10A1 Health Risk Likely pathogenic —
RS1554193405 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554194287 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554194404 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554194504 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554194511 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554194574 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1554194690 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1554195302 NSD1 Health Risk Pathogenic —
RS1554195815 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1554195840 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1554195857 NSD1 Health Risk Pathogenic —
RS1554196416 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554196907 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554197025 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554197152 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554197721 NDUFAF4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 15
RS1554197794 NSD1 Health Risk Pathogenic —
RS1554198072 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554198312 PHIP Health Risk Likely pathogenic —
RS1554198434 NSD1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554198717 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554198780 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554199226 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554199349 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554199368 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1554199383 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS1554199392 NSD1 Health Risk Pathogenic —
RS1554199501 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554200200 NSD1 Health Risk Likely pathogenic —
RS1554200207 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1554200214 NSD1 Health Risk Pathogenic —
RS1554200371 TENT5A Health Risk Pathogenic Osteogenesis imperfecta, type 18
RS1554200383 TENT5A Health Risk Pathogenic Osteogenesis imperfecta, type 18
RS1554200722 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS1554200778 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554200780 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554200990 GJA1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Oculodentodigital dysplasia
RS1554200992 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, autosomal recessive
RS1554200995 GJA1 Health Risk Pathogenic/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
RS1554201011 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, autosomal recessive
RS1554201017 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, autosomal recessive
RS1554201018 GJA1 Health Risk Pathogenic/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
RS1554201019 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, autosomal recessive
RS1554201043 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS1554201088 GJA1 Health Risk Likely pathogenic —
RS1554201137 KCNQ5 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 46
RS1554201397 DIAPH1 Health Risk Pathogenic —
RS1554201713 NSD1 Health Risk Pathogenic —
RS1554201740 NSD1 Health Risk Pathogenic —
RS1554202205 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1554202416 TUBB Health Risk Conflicting classifications of pathogenicity Lissencephaly, Multiple benign circumferential skin creases on limbs 1
RS1554202698 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS1554203400 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1554203715 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS1554204054 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554204064 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1554204102 NSD1 Health Risk Likely pathogenic —
RS1554204110 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1554204122 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1554204165 NSD1 Health Risk Pathogenic —
RS1554204415 MYO6 Health Risk Pathogenic —
RS1554204587 NSD1 Health Risk Pathogenic —
RS1554204594 NSD1 Health Risk Likely pathogenic —
RS1554204648 NSD1 Health Risk Likely pathogenic —
RS1554204905 NSD1 Health Risk Pathogenic —
RS1554204921 NSD1 Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Sotos syndrome
RS1554204923 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1554204952 NSD1 Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554204963 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554205499 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1554205506 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1554205541 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, BCKDHB-related disorder
RS1554205683 MYO6 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1554205939 NSD1 Health Risk Pathogenic —
RS1554206783 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1554206834 NSD1 Health Risk Pathogenic —
RS1554206836 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS1554206845 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1554207040 MYO6 Health Risk Pathogenic —
RS1554207086 EYS Health Risk Conflicting classifications of pathogenicity —
RS1554207244 NSD1 Health Risk Likely pathogenic —
RS1554207287 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1554207316 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1554207344 NSD1 Health Risk Likely pathogenic —
RS1554207690 NSD1 Health Risk Likely pathogenic —
RS1554207834 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554208257 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554208431 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1554208945 ZNF292 Health Risk Likely pathogenic ZNF292-related neurodevelopmental condition, Neurodevelopmental disorder
RS1554209188 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554209758 AHI1 Health Risk Likely pathogenic —
RS1554210066 PHIP Health Risk Pathogenic PHIP-related disorder, PHIP-related disorder
RS1554210073 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554210085 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554210094 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
« Prev 1 ... 810 811 812 813 814 815 816 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →