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
RS1700091023 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, SCN2A-related disorder
RS1700091133 SCN2A Health Risk Likely pathogenic —
RS1700129673 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS1700129715 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1700132195 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1700146530 ABCA12 Health Risk Pathogenic —
RS1700257346 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1700264768 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1700265109 CPS1 Health Risk Pathogenic Pulmonary hypertension, neonatal
RS1700306908 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS17003166 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS1700323685 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1700331549 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1700428230 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1700431210 LARS2 Health Risk Likely pathogenic —
RS1700436943 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS1700437565 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1700452978 CPS1 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, neonatal
RS1700454068 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1700455336 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1700517033 GLYCTK Health Risk Conflicting classifications of pathogenicity D-Glyceric aciduria, D-Glyceric aciduria
RS1700523651 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS17005371 OTOF Health Risk Conflicting classifications of pathogenicity —
RS1700545926 TMIE Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS1700584499 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 15
RS17006082 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1700635072 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1700648887 SAG Health Risk Pathogenic Oguchi disease-2, Oguchi disease-2
RS1700663077 SCN2A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS17006830 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Kidney disorder
RS1700715255 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1700730895 ATP5MC3 Health Risk Pathogenic Dystonia, early-onset
RS1700769766 SLC6A6 Health Risk Likely pathogenic Retinal degeneration, Hypotaurinemic retinal degeneration and cardiomyopathy
RS1700783234 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1700804080 CPS1 Health Risk Likely pathogenic —
RS1700874955 SAG Health Risk Pathogenic —
RS1700875869 LZTFL1 Health Risk Likely pathogenic —
RS1700881929 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1700887978 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1700953301 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1700956378 SCN2A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1700979727 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1701063284 SAG Health Risk Likely pathogenic —
RS1701105628 ACY1 Health Risk Likely pathogenic Aminoacylase 1 deficiency, Aminoacylase 1 deficiency
RS1701129738 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1701136915 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1701138696 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1701139863 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1701171267 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1701172643 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1701192142 DNAH1 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS1701219319 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1701224136 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1701224556 SCN2A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1701241345 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1701282121 ABCA12 Health Risk Pathogenic —
RS1701306294 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701306659 CRTAP Health Risk Pathogenic/Likely pathogenic CRTAP-related disorder, Osteogenesis imperfecta type 7
RS1701306755 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta type 7
RS1701308701 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701318535 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701320767 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701330284 DNAH1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1701381827 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1701383543 ABCA12 Health Risk Likely pathogenic —
RS1701516867 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1701517964 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Inborn genetic diseases
RS1701553164 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1701553334 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1701554261 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1701579057 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, See cases
RS1701579531 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1701580892 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1701581615 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1701581960 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1701662808 RFT1 Health Risk Likely pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS1701696937 RARB Health Risk Likely pathogenic Microphthalmia, syndromic 12
RS1701697098 RARB Health Risk Conflicting classifications of pathogenicity Microphthalmia, syndromic 12
RS1701741963 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1701775522 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1701834292 RARB Health Risk Likely pathogenic Microphthalmia, syndromic 12
RS1701836507 RARB Health Risk Pathogenic/Likely pathogenic Microphthalmia, syndromic 12
RS1701868598 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS1701869111 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1701876010 TTN Health Risk Conflicting classifications of pathogenicity —
RS1701905156 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1701905708 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1701925645 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1701973330 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1701999328 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1702001950 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS1702003246 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1702003567 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1702004667 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1702006147 SCN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1702006258 SCN2A Health Risk Likely pathogenic Seizure, Seizures
RS1702006673 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1702008208 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1702008323 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, West syndrome
RS1702008435 SCN2A Health Risk Pathogenic/Likely pathogenic Episodic ataxia, type 9
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