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
RS1554714095 PLEC Health Risk Pathogenic —
RS1554715600 PLEC Health Risk Likely pathogenic —
RS1554715907 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1554716257 SECISBP2 Health Risk Likely pathogenic —
RS1554716504 SPTLC1 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS1554717956 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS1554718962 C5 Health Risk Likely pathogenic Complement component 5 deficiency, Complement component 5 deficiency
RS1554719990 PLEC Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS1554720083 PLEC Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of plectin, Neuromuscular disease caused by qualitative or quantitative defects of plectin
RS1554721033 NR5A1 Health Risk Likely pathogenic —
RS1554721227 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1554721235 NR5A1 Health Risk Pathogenic/Likely pathogenic 46, XY sex reversal 3
RS1554721492 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with nail dystrophy
RS1554721745 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS1554721879 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1554721883 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS1554721897 LMX1B Health Risk Likely pathogenic —
RS1554722232 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1554722453 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1554723160 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1554723625 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1554724125 PLEC Health Risk Pathogenic —
RS1554724691 GFI1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554724694 GFI1B Health Risk Pathogenic Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
RS1554725033 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1554725034 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS1554725677 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS1554725724 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS1554725979 GLE1 Health Risk Likely pathogenic —
RS1554726245 COL5A1 Health Risk Likely pathogenic Hyperextensible skin, Cigarette-paper scars
RS1554726251 COL5A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554726279 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554726283 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554727954 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, NOTCH1-related disorder
RS1554728327 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS1554728351 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS1554728424 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1554728428 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1554728529 NOTCH1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554728698 LMX1B Health Risk Pathogenic Nail-patella syndrome, Inborn genetic diseases
RS1554729113 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1554729118 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1554729443 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1554730137 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS1554730184 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1554730670 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Neoplasm
RS1554730737 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1554730749 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554730758 NOTCH1 Health Risk Likely pathogenic —
RS1554731002 TMC1 Health Risk Pathogenic —
RS1554732594 TRIM32 Health Risk Likely pathogenic —
RS1554732623 TRIM32 Health Risk Pathogenic/Likely pathogenic TRIM32-related disorder, TRIM32-related disorder
RS1554733019 TRIM32 Health Risk Pathogenic —
RS1554737064 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1554737534 CACNA1B Health Risk Pathogenic —
RS1554738159 CACNA1B Health Risk Pathogenic Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS1554738360 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1554741638 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1554743428 TDRD7 Health Risk Pathogenic Cataract 36, Cataract 36
RS1554744860 TDRD7 Health Risk Pathogenic Cataract 36, Cataract 36
RS1554745695 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1554746094 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS1554746097 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554746116 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1554746442 SPTAN1 Health Risk Likely pathogenic —
RS1554746565 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554746793 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554746855 ANKS6 Health Risk Pathogenic —
RS1554747007 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554747871 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554747933 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554748292 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1554748528 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS1554748534 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554748574 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554748598 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554749639 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554749672 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1554752310 CACNA1B Health Risk Pathogenic —
RS1554752805 FKTN Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1554752857 PRDM12 Health Risk Likely pathogenic —
RS1554752862 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS1554753226 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1554753528 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1554753670 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1554754007 ROR2 Health Risk Pathogenic —
RS1554754182 FKTN Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1554754342 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1554754678 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1554755313 CDK5RAP2 Health Risk Likely pathogenic —
RS1554756035 SYNE1 Health Risk Pathogenic —
RS1554756114 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1554757211 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS1554757237 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1
RS1554757924 OPLAH Health Risk Likely pathogenic OPLAH-related disorder, OPLAH-related disorder
RS1554758408 CACNA1B Health Risk Pathogenic —
RS1554759745 SPTAN1 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1554759918 OPLAH Health Risk Likely pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS1554760412 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS1554760445 ABO Health Risk association ABO blood group system, ABO blood group system
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