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
RS1592613721 OTOGL Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS1592614756 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592629980 PPP1R12A Health Risk Pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS1592630079 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592631789 DNM1L Health Risk Pathogenic Encephalopathy, lethal
RS1592631908 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1592633378 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592633463 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592634740 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592636161 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1592637081 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592637440 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592637455 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592639588 CEP290 Health Risk Pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1592640081 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1592640181 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592640213 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1592640846 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1592643070 MEN1 Health Risk Likely pathogenic —
RS1592643178 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1592643488 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592646211 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1592646226 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1592646283 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1592646641 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1592646765 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1592646831 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1592647281 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1592647398 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592648765 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592648830 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592649069 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1592649108 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1592649598 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1592649615 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS1592650986 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1592651018 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1592651767 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592654547 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592656929 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1592657785 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592657892 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1592658517 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592659414 MEN1 Health Risk Pathogenic —
RS1592659770 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592660057 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1592660101 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1592660695 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1592660983 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1592661082 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1592661703 PPP1R12A Health Risk Pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS1592661947 DNM1L Health Risk Likely pathogenic —
RS1592661973 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS1592668925 CEP290 Health Risk Pathogenic Joubert syndrome 1, Meckel-Gruber syndrome
RS1592671313 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS1592671618 CEP290 Health Risk Likely pathogenic —
RS1592671672 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 4
RS1592676397 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1592704794 NDUFA12 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 23
RS1592706963 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1592726020 CEP290 Health Risk Pathogenic Leber congenital amaurosis, Bardet-Biedl syndrome 14
RS1592726662 OTOGL Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1592729525 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1592737769 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1592737932 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1592738654 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1592746270 PKP2 Health Risk Likely pathogenic —
RS1592752356 POLR3B Health Risk Pathogenic/Likely pathogenic —
RS1592758957 PKP2 Health Risk Likely pathogenic —
RS1592777182 SDHD Health Risk Likely pathogenic —
RS1592777386 SDHD Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss
RS1592778916 SDHD Health Risk Conflicting classifications of pathogenicity Cowden syndrome 3, Pheochromocytoma
RS1592778920 NR2C1 Health Risk Likely pathogenic Flexion contracture, Flexion contracture
RS1592778958 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 3
RS1592779077 PTPRQ Health Risk Likely pathogenic Ear malformation, Ear malformation
RS1592780479 SDHD Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 1
RS1592784618 CEP290 Health Risk Pathogenic Leber congenital amaurosis, Meckel-Gruber syndrome
RS1592786159 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss
RS1592798444 MYL2 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1592798693 KRAS Health Risk Likely pathogenic Noonan syndrome 3, KRAS-related disorder
RS1592806462 NRAP Health Risk Likely pathogenic NRAP-related disorder, NRAP-related disorder
RS1592807018 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS1592808035 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1592808357 KRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome 3, Noonan syndrome 3
RS1592818641 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS1592829198 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1592831898 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1592833648 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 5, Senior-Loken syndrome 6
RS1592836704 CEP290 Health Risk Likely pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1592837549 IGF1 Health Risk Likely pathogenic Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
RS1592838547 RXYLT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1592839705 ATP2A2 Health Risk Likely pathogenic Keratosis follicularis, Keratosis follicularis
RS1592847299 PTPN11 Health Risk Likely pathogenic Ventricular tachycardia, Ventricular tachycardia
RS1592851007 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS1592851924 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS1592852070 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS1592852902 PTPN11 Health Risk Likely pathogenic Noonan syndrome 1, Noonan syndrome 1
RS1592852978 PTPN11 Health Risk Pathogenic Metachondromatosis, Metachondromatosis
RS1592864859 ATP2A2 Health Risk Likely pathogenic Keratosis follicularis, Keratosis follicularis
RS1592868802 ATP2A2 Health Risk Likely pathogenic —
« Prev 1 ... 1098 1099 1100 1101 1102 1103 1104 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →