SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS797046125 ZNF335 Health Risk Conflicting classifications of pathogenicity —
RS797046127 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS797046132 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS797046134 ALDH1A3 Health Risk Likely pathogenic Autism, Autism
RS797046136 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS797046139 JUP Health Risk Pathogenic Naxos disease, Naxos disease
RS79708848 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis
RS79708859 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS79713558 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS79717168 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS79724982 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS79727659 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS79728106 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS79728438 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS79730631 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS79730689 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, GPSM2-related disorder
RS79734645 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS79746977 TTC21B Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Jeune thoracic dystrophy
RS79747991 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4C
RS7975232 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Hepatocellular carcinoma
RS79761867 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS79762798 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS79769402 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS79771882 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS79772571 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS79777494 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS79781594 RET Health Risk Pathogenic Familial medullary thyroid carcinoma, Multiple endocrine neoplasia type 2A
RS79783591 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS79784540 SMN1 Health Risk Pathogenic —
RS79796061 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS79803080 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS79805025 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Paroxysmal extreme pain disorder
RS79805606 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS79815243 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS79815348 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS79819500 SH2B3 Health Risk Conflicting classifications of pathogenicity SH2B3-related disorder, Uterine corpus endometrial carcinoma
RS79830675 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS79831528 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS79833450 DNAI1 Health Risk Pathogenic/Likely pathogenic Kartagener syndrome, Primary ciliary dyskinesia
RS79850223 CFTR Health Risk Pathogenic Cystic fibrosis, Hereditary pancreatitis
RS79853121 RET Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS79869130 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS79871543 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS79875849 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Inborn genetic diseases
RS79879471 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS79889829 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS79890926 RET Health Risk Pathogenic MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
RS79891110 CACNA1C Health Risk Pathogenic Timothy syndrome, Congenital long QT syndrome
RS79893082 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS79907212 LMNA Health Risk Pathogenic Hutchinson-Gilford progeria syndrome, atypical
RS79909102 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 2
RS79913182 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS79922016 SAG Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease
RS79926414 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS79931499 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS79943145 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS79951875 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS79952473 MYH3 Health Risk Likely pathogenic —
RS79954820 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS79967166 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS79970603 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS79972129 CTSK Health Risk Pathogenic —
RS79977247 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS79987078 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS79987208 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS799917 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80006036 PABPC1 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS80027466 AAAS Health Risk Conflicting classifications of pathogenicity —
RS80028391 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS80028865 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, VCAN-related disorder
RS80030397 ROBO1 Health Risk Conflicting classifications of pathogenicity Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS80034299 TMEM237 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 14, Joubert syndrome and related disorders
RS80034486 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS80044281 SPATA7 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 3, SPATA7-related disorder
RS80046702 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS80050321 LONP1 Health Risk Conflicting classifications of pathogenicity LONP1-related disorder, CODAS syndrome
RS80051519 CYP19A1 Health Risk Likely pathogenic Aromatase deficiency, Aromatase deficiency
RS80053154 FGFR3 Health Risk Conflicting classifications of pathogenicity Hypochondroplasia, Muenke syndrome
RS80055610 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS80063198 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS80067609 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS80069458 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS80081880 SCNN1G Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS80084721 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, GALK1-related disorder
RS80087649 RNASEH2B Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS80088294 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS80092457 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS80095433 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS80100937 CNNM4 Health Risk Pathogenic Jalili syndrome, Retinal dystrophy
RS80106112 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS8010699 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS80107141 POMGNT1 Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
RS80110492 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Dilated cardiomyopathy 1JJ
RS80116829 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS80120302 GCLC Health Risk Conflicting classifications of pathogenicity GCLC-related disorder, GCLC-related disorder
RS80122842 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS80132141 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS80133923 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS80145681 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS80151896 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 54
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