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
RS1583605716 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS1583607800 LOC111365204;PRDM13 Health Risk Pathogenic/Likely pathogenic maculopathy, North Carolina macular dystrophy
RS1583608433 CSNK2B Health Risk Conflicting classifications of pathogenicity Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS1583609839 LOC111365204 Health Risk Pathogenic Progressive bifocal chorioretinal atrophy, Progressive bifocal chorioretinal atrophy
RS1583610610 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS1583610622 CSNK2B Health Risk Likely pathogenic Intellectual disability, Seizure
RS1583611290 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS1583611843 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS1583613268 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS1583616682 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1583647043 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1583657698 KLHL7 Health Risk Pathogenic/Likely pathogenic Bohring-Opitz syndrome, PERCHING syndrome
RS1583685951 DNAH11 Health Risk Likely pathogenic —
RS1583695322 FIG4 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease
RS1583695328 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4J
RS1583697607 FIG4 Health Risk Likely pathogenic —
RS1583725395 FKBP14 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS1583728165 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS1583728402 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS1583728570 GLI3 Health Risk Pathogenic —
RS1583729398 GLI3 Health Risk Pathogenic Postaxial polydactyly, type A1/B
RS1583729562 GLI3 Health Risk Pathogenic Polysyndactyly 4, Polysyndactyly 4
RS1583733628 KLHL7 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1583734240 GLI3 Health Risk Pathogenic Postaxial polydactyly type B, Postaxial polydactyly type B
RS1583734485 FKBP14 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS1583738732 FKBP14 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS1583747773 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1583756552 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1583771680 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS1583790201 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1583801167 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1583805203 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1583806864 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1583813573 LAMA2 Health Risk Pathogenic —
RS1583815667 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1583818052 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1583818183 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1583819255 CCM2 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1583819935 MPIG6B Health Risk Pathogenic —
RS1583822018 ELN Health Risk Likely pathogenic —
RS1583845651 LAMA2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, limb-girdle
RS1583873953 ELN Health Risk Likely pathogenic —
RS1583879945 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1583884979 NT5C3A Health Risk Conflicting classifications of pathogenicity —
RS1583893433 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1583901813 CCM2 Health Risk Pathogenic —
RS1583913715 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS1583919688 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1583929127 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1583955795 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1583959262 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1583964560 HSPB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1583966508 HSPB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1583970495 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1583972803 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1583981615 YWHAG Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 56
RS1583981736 YWHAG Health Risk Pathogenic 8 conditions, Developmental and epileptic encephalopathy
RS1583983649 CCM2 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Cerebral cavernous malformation
RS1583984070 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1584026191 GARS1 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1584028092 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1584028936 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1584031242 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1584032751 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1584034430 GARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Neuronopathy
RS1584035995 CDK13 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1584062332 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS1584071201 PCLO Health Risk Likely pathogenic Pontocerebellar hypoplasia type 3, Pontocerebellar hypoplasia type 3
RS1584086882 CAMK2B Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS1584100685 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1584179629 BBS9 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1584203922 AP1S1 Health Risk Pathogenic/Likely pathogenic MEDNIK syndrome, MEDNIK syndrome
RS1584238193 EGFR Health Risk Pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS1584251663 SAMD9 Health Risk Conflicting classifications of pathogenicity —
RS1584251938 SAMD9 Health Risk Pathogenic MIRAGE syndrome, MIRAGE syndrome
RS1584253343 SAMD9 Health Risk Pathogenic MIRAGE syndrome, MIRAGE syndrome
RS1584253388 SAMD9 Health Risk Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS1584254152 SAMD9 Health Risk Pathogenic MIRAGE syndrome, MIRAGE syndrome
RS1584254471 SAMD9 Health Risk Likely pathogenic —
RS1584261177 ACTB Health Risk Likely pathogenic —
RS1584261979 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1584262037 ACTB Health Risk Conflicting classifications of pathogenicity —
RS1584263049 ACTB Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1584292992 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1584306754 SLC26A4 Health Risk Likely pathogenic —
RS1584315950 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1584316181 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1584317722 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1584318303 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1584318648 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1584318953 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1584318956 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1584319045 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1584319418 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type III
RS1584319922 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1584320246 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
RS1584320553 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1584320605 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, arthrochalasia type
RS1584321194 COL1A2 Health Risk Likely pathogenic —
RS1584322496 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type III, Osteogenesis imperfecta
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