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
RS202228866 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS202228932 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS202229368 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS202229506 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS202229735 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS202229910 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS202230438 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS202230563 AGAP1 Health Risk Conflicting classifications of pathogenicity —
RS202230667 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS202230897 NAA15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS202231175 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS202231211 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Inborn genetic diseases
RS202231290 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS202231291 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS202231419 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS202232301 COLGALT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202232360 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS202232444 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202232611 UROC1 Health Risk Conflicting classifications of pathogenicity Urocanate hydratase deficiency, Urocanate hydratase deficiency
RS202232678 GPR173 Health Risk Conflicting classifications of pathogenicity —
RS202232792 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS202233363 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS202233735 CRYGD Health Risk Conflicting classifications of pathogenicity Cataract 4 multiple types, Aculeiform cataract
RS202234120 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS202234129 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1, Chronic infantile neurological
RS202234172 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS202234374 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS202234492 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS202234596 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS202234617 MYL3 Health Risk Conflicting classifications of pathogenicity MYL3-related disorder, MYL3-related disorder
RS202234745 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS202235021 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS202235419 NOTCH1 Health Risk Likely pathogenic Hypoplastic left heart syndrome, Hypoplastic left heart syndrome
RS202235611 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS202235745 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS202236029 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS202236144 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS202236498 TOP2B Health Risk Conflicting classifications of pathogenicity —
RS202237054 NUP160 Health Risk Conflicting classifications of pathogenicity —
RS202237232 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS202237336 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS202237707 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202237834 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS202237883 MYO1E Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS202238153 KCNJ11 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS202238194 TNNI3K Health Risk Pathogenic/Likely pathogenic Atrial conduction disease, Cardiovascular phenotype
RS202238753 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy
RS202239352 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
RS202239395 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, 7 conditions
RS202239914 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS202239983 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS202240086 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202240106 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS202240111 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS202240122 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS202240409 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS202240410 USP45 Health Risk Pathogenic Leber congenital amaurosis 19, Leber congenital amaurosis 19
RS202240487 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS202240664 SYNE2 Health Risk Conflicting classifications of pathogenicity SYNE2-related disorder, Emery-Dreifuss muscular dystrophy 5
RS202241113 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS202241157 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS202241382 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS202241429 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS202242186 MRPS16 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 2, Combined oxidative phosphorylation defect type 2
RS202242262 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS202242304 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS202242354 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS202242469 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202242762 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS202242769 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS202243080 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, SNRNP200-related disorder
RS202243185 RASGRP1 Health Risk Conflicting classifications of pathogenicity —
RS202243588 SPTA1 Health Risk Conflicting classifications of pathogenicity Familial hemolytic anemia, Pyropoikilocytosis
RS202243658 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, Alport syndrome
RS202243677 KRT2 Health Risk Conflicting classifications of pathogenicity Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS202243808 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Autosomal dominant distal renal tubular acidosis
RS202244041 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS202244080 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS202244328 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS202244562 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS202245413 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS202245561 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202245796 DNAH7 Health Risk Conflicting classifications of pathogenicity —
RS202245813 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS202245868 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202246074 PDPR Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS202246093 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS202246304 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS202246408 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS202246872 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Clear cell carcinoma of kidney
RS202247258 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS202247290 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS202247605 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS202247664 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS202247757 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS202247790 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS202247791 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS202247792 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS202247803 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, SLC25A15-related disorder
RS202247805 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
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