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
RS1555658568 SMAD2 Health Risk Likely pathogenic —
RS1555658855 SMCHD1 Health Risk Likely pathogenic —
RS1555659101 GREB1L Health Risk Pathogenic/Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555659856 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Amyotrophic neuralgia
RS1555660209 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555660806 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1555661490 GREB1L Health Risk Pathogenic Inner ear malformation, Hearing loss
RS1555661506 TLK2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555661648 AQP4 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1555661907 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555662027 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555662052 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555662061 GREB1L Health Risk Pathogenic/Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555664772 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555665627 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1555666371 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS1555666392 ACTG1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Baraitser-winter syndrome 2
RS1555666501 ACTG1 Health Risk Likely pathogenic —
RS1555666509 ACTG1 Health Risk Likely pathogenic Monogenic hearing loss, Monogenic hearing loss
RS1555666624 ACTG1 Health Risk Pathogenic —
RS1555666709 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS1555666715 ACTG1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Baraitser-winter syndrome 2
RS1555666789 ACTG1 Health Risk Likely pathogenic Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS1555667231 EPG5 Health Risk Pathogenic —
RS1555667354 POLG2 Health Risk Pathogenic —
RS1555667383 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS1555667735 RAX Health Risk Likely pathogenic —
RS1555668353 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS1555668382 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS1555668728 POLG2 Health Risk Pathogenic —
RS1555668791 EPG5 Health Risk Likely pathogenic —
RS1555669248 TUBB6 Health Risk Pathogenic Facial palsy, congenital
RS1555669421 TLK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 57
RS1555669548 POLG2 Health Risk Pathogenic/Likely pathogenic POLG2-related disorder, POLG2-related disorder
RS1555669550 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS1555670704 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1555671201 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1555671254 EPG5 Health Risk Pathogenic —
RS1555671331 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1555671335 DSG2 Health Risk Likely pathogenic —
RS1555671441 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1555672574 CACNA1C Health Risk Likely pathogenic Timothy syndrome, Timothy syndrome
RS1555672928 CFAP53 Health Risk Likely pathogenic Dextrocardia, Dextrocardia
RS1555673890 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1555673917 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1555675538 RNF213 Health Risk Likely pathogenic Moyamoya disease 2, Moyamoya angiopathy
RS1555676035 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, Moyamoya disease 1
RS1555676146 RNF213 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555679237 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS1555679863 LOXHD1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Nonsyndromic genetic hearing loss
RS1555680544 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1555681351 LOXHD1 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1555681647 EPG5 Health Risk Pathogenic —
RS1555682265 DCC Health Risk Pathogenic Gaze palsy, familial horizontal
RS1555682938 PIGN Health Risk Pathogenic Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1555683948 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1555683951 LOXHD1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 77
RS1555685040 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1555685142 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS1555685149 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1555685156 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555685159 SMAD4 Health Risk Conflicting classifications of pathogenicity Heritable Thoracic Aortic Disease, Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia
RS1555685182 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555685248 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1555685622 SMAD4 Health Risk Likely pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS1555685624 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1555685629 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1555685645 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555685797 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1555685925 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1555685949 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555685962 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1555685974 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1555685978 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1555686070 SMAD4 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1555686071 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1555686086 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1555686469 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS1555686499 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS1555686503 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1555686506 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555686594 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555686600 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1555686604 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555686608 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555686610 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1555686616 SMAD4 Health Risk Pathogenic/Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome
RS1555686624 SMAD4 Health Risk Likely pathogenic Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS1555687377 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555687378 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS1555687386 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1555687387 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS1555687388 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1555687572 SMAD4 Health Risk Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS1555687625 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1555687655 DNMT1 Health Risk Likely pathogenic Autosomal dominant cerebellar ataxia, deafness and narcolepsy
RS1555688659 CYB5A Health Risk Likely pathogenic Methemoglobinemia type 4, Methemoglobinemia type 4
RS1555688690 DOCK6 Health Risk Pathogenic —
RS1555689635 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS1555690779 RAB11B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with ataxic gait, absent speech
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