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
RS1558680405 HAAO Health Risk Pathogenic Congenital NAD deficiency disorder, Vertebral
RS1558681020 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1558693760 CALM2 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1558697970 DNMT3A Health Risk Pathogenic —
RS1558698334 RYR2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1558699183 RPIA Health Risk Likely pathogenic Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS1558708492 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Thyroid cancer
RS1558710588 MYT1L Health Risk Likely pathogenic —
RS1558711346 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1558712349 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1558712413 ALMS1 Health Risk Pathogenic —
RS1558715857 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1558715877 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1558716043 CRIPT Health Risk Pathogenic Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3
RS1558718572 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1558727300 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1558728601 GFPT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1558735946 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1558737575 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1558738919 ABCG5 Health Risk Pathogenic/Likely pathogenic Sitosterolemia 2, Sitosterolemia
RS1558741321 FANCL Health Risk Likely pathogenic —
RS1558749457 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1558750788 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558752379 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma
RS1558752468 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1558756489 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS1558756681 LOC129934333;TMEM127 Health Risk Likely pathogenic —
RS1558756727 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1558761046 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1558762013 GFPT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1558771348 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558771751 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558773839 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1558782178 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558783870 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1558787823 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558787893 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558788338 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558792168 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558792256 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558793454 MERTK Health Risk Conflicting classifications of pathogenicity —
RS1558793621 EDAR Health Risk Pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS1558793736 EDAR Health Risk Pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS1558796310 ABCG8 Health Risk Pathogenic —
RS1558805679 RAB3GAP1 Health Risk Likely pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558805781 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558805900 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558806955 GGCX Health Risk Pathogenic/Likely pathogenic GGCX-related disorder, GGCX-related disorder
RS1558808357 CNGA3 Health Risk Pathogenic —
RS1558811557 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia
RS1558811634 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1558814135 EDAR Health Risk Pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS1558814967 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS1558817973 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558820134 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Achromatopsia 2
RS1558820471 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1558825869 NEB Health Risk Conflicting classifications of pathogenicity —
RS1558826853 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1558831442 ORC4 Health Risk Pathogenic —
RS1558845002 MMADHC Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1558863867 ABCG8 Health Risk Likely pathogenic —
RS1558872822 SLC5A7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronopathy
RS1558872865 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1558875029 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1558875298 REEP1 Health Risk Pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1558879403 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1558879863 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1558879940 SCN2A Health Risk Conflicting classifications of pathogenicity —
RS1558883594 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1558885489 SCN2A Health Risk Likely pathogenic —
RS1558885691 SCN2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1558886061 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1558886146 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1558886168 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1558894166 ABCB11 Health Risk Pathogenic —
RS1558897179 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS1558898568 REEP1 Health Risk Pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1558898789 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1558903736 LOC122756382;LPIN1 Health Risk Pathogenic —
RS1558906985 SLC25A12 Health Risk Pathogenic Developmental and epileptic encephalopathy, 39
RS1558912774 ABCB11 Health Risk Pathogenic —
RS1558913371 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1558917090 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder
RS1558925686 NRXN1 Health Risk Likely pathogenic —
RS1558927163 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1558936154 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1558937172 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1558939623 CHN1 Health Risk Likely pathogenic —
RS1558941490 GLI2 Health Risk Pathogenic —
RS1558948987 DCTN1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Perry syndrome
RS1558964705 ERCC3 Health Risk Pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS1558965303 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1558967217 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1558971345 GLS Health Risk Pathogenic Developmental and epileptic encephalopathy, 71
RS1558972120 GLS Health Risk Pathogenic Developmental and epileptic encephalopathy, 71
RS1558973667 GLS Health Risk Pathogenic Global developmental delay, progressive ataxia
RS1558986214 GLS Health Risk Pathogenic Infantile cataract, skin abnormalities
RS1558988204 TTN Health Risk Likely pathogenic Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1558992611 GALNT3 Health Risk Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS1558993255 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
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