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
RS1271112115 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1271131796 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1271133647 PPM1D Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1271141178 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
RS1271144650 PIGV Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1271167685 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS1271185594 NRL Health Risk Pathogenic —
RS1271191797 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1271198944 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1271212818 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS12712135 IL1RL1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS1271213967 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1271214101 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1271242899 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1271250182 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1271250198 KCNQ4 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS1271303836 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1271311339 MYO18B Health Risk Likely pathogenic —
RS1271312946 TTC8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa 51
RS1271325628 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1271339736 AGBL5 Health Risk Likely pathogenic Retinitis pigmentosa 75, Retinitis pigmentosa 75
RS12713450 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS12713501 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS12713540 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS12713558 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1271359284 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS12713675 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS12713681 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS12713843 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1271388335 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1271398801 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS12714097 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1271411894 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1271416659 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS1271418277 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS12714189 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS12714192 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS12714214 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS12714225 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1271428051 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1271454652 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS1271498710 NMNAT1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 9, Cone dystrophy
RS1271505111 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1271513534 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS1271513895 PRG4 Health Risk Likely pathogenic Abnormality of the skeletal system, Abnormality of the skeletal system
RS1271517550 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1271517650 ALOX12B Health Risk Pathogenic —
RS1271540719 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1271545054 HSPG2 Health Risk Pathogenic —
RS1271569386 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1271613655 RS1 Health Risk Pathogenic —
RS1271630029 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1271635013 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1271658593 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1271664419 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1271669044 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS1271683445 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS1271686561 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1271691132 DLL3 Health Risk Pathogenic —
RS1271700356 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1271715523 DHDDS Health Risk Likely pathogenic —
RS1271751767 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1271766753 UNC80 Health Risk Likely pathogenic —
RS1271767085 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1271777808 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1271784136 ELP1 Health Risk Pathogenic —
RS1271800091 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1271803838 DHTKD1 Health Risk Pathogenic/Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease axonal type 2Q
RS1271807828 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1271816211 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 8
RS1271819892 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1271824691 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1271825377 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS1271829589 F5 Health Risk Pathogenic/Likely pathogenic Congenital factor V deficiency, Pregnancy loss
RS1271843078 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1271884981 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1271928727 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1271934002 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1271940495 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1271941628 NOTCH1 Health Risk Likely pathogenic Aortic valve disease 1, Aortic valve disease 1
RS1271948695 DNAAF4 Health Risk Pathogenic —
RS1271981862 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1271983360 OTOA Health Risk Pathogenic OTOA-related disorder, OTOA-related disorder
RS1271993311 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis 4
RS1272002645 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS12720064 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Brugada syndrome 1
RS12720097 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1272010542 C6 Health Risk Pathogenic —
RS12720203 EDNRB Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS1272022379 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1272032670 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1272037551 AHI1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome 3
RS12720441 KCNH2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Brugada syndrome
RS12720443 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS12720444 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS12720445 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS12720452 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS12720457 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Atrial fibrillation
RS12720458 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Congenital long QT syndrome
RS12720459 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1/2, digenic
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