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
RS1287655964 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1287661192 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1287663770 ERCC2 Health Risk Pathogenic —
RS1287669340 AGTPBP1 Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS1287677844 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1287691422 ARPC5 Health Risk Pathogenic Immunodeficiency 113 with autoimmunity and autoinflammation, Immunodeficiency 113 with autoimmunity and autoinflammation
RS1287699378 PDZD7 Health Risk Pathogenic —
RS1287725303 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1287727763 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS1287734210 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1287735969 TYR Health Risk Pathogenic —
RS1287749285 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS12877501 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Optic nerve hypoplasia
RS1287752405 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1287757170 TNR Health Risk Pathogenic Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder
RS1287759139 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1287781089 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS1287837570 COG8 Health Risk Pathogenic/Likely pathogenic COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS1287837850 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1287843869 TARS2 Health Risk Likely pathogenic —
RS1287849806 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1287863349 SCN4A Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 2
RS1287871034 CYP11A1 Health Risk Pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS1287878235 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1287887419 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1287889008 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS1287957722 MYO15A Health Risk Pathogenic —
RS1287973337 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1287977867 PDZD7 Health Risk Pathogenic —
RS1287996085 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS1288008254 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1288017883 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1288018118 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1288020047 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases
RS1288036533 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1288094664 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, 6 conditions
RS1288106608 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS1288116010 EPRS1 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS1288123680 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1288124721 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1288156431 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS1288171226 DHODH Health Risk Likely pathogenic Miller syndrome, Miller syndrome
RS1288191896 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1288199769 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS1288202550 POLR3K Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS1288202574 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1288225757 RPGRIP1L Health Risk Likely pathogenic —
RS1288276942 PNPT1 Health Risk Pathogenic —
RS1288292297 OTOA Health Risk Pathogenic —
RS1288293766 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1288297948 KCNJ10 Health Risk Pathogenic —
RS1288307487 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1288328459 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1288335099 MC4R Health Risk Likely pathogenic Obesity, Obesity
RS1288339759 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1288345334 PARN Health Risk Likely pathogenic Pulmonary fibrosis, Dyskeratosis congenita
RS1288346981 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis, Renal tubular acidosis with progressive nerve deafness
RS1288347488 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1288358527 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1288376188 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1288381992 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1288385043 AQP2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1288398919 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1288425927 RAB11B Health Risk Likely pathogenic —
RS1288429932 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1288449186 CYP2U1 Health Risk Pathogenic —
RS1288452350 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS1288483479 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1288484218 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1288484976 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1288510945 TCF12 Health Risk Pathogenic —
RS1288514578 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS1288519568 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1288520983 COL6A2 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS1288532385 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, Inborn genetic diseases
RS1288544172 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1288561509 TERC Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 1
RS1288603602 VPS13D Health Risk Pathogenic/Likely pathogenic VPS13D-related disorder, VPS13D-related disorder
RS1288619268 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Joubert syndrome
RS1288620533 MAK Health Risk Pathogenic —
RS1288629241 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1288644511 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1288691986 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS1288709591 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS1288729113 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1288729804 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1288735234 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1288748311 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1288767318 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1288771489 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1288771812 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1288777017 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1288784071 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS1288789420 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1288796003 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1288801444 COL4A3 Health Risk Likely pathogenic COL4A3-related disorder, COL4A3-related disorder
RS1288816930 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS1288821918 PRDM12 Health Risk Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases
RS1288828016 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1288832655 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
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