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
RS1954412043 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954414269 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954415156 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954415964 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954422814 ABCC8 Health Risk Conflicting classifications of pathogenicity Leucine-induced hypoglycemia, Maturity-onset diabetes of the young
RS1954437523 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1954444202 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS1954470017 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954470670 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954471038 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1954474030 MYO7A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 1
RS1954474111 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1954477050 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1954520736 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS1954534591 PAX6 Health Risk Pathogenic/Likely pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1954544114 DNM1L Health Risk Likely pathogenic Inborn genetic diseases, Encephalopathy
RS1954548195 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis
RS1954548327 CPAP Health Risk Pathogenic Seckel syndrome 4, Seckel syndrome 4
RS1954549039 MYO7A Health Risk Pathogenic —
RS1954553083 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1954557651 MYO7A Health Risk Pathogenic/Likely pathogenic —
RS1954568421 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1954570162 DIP2C Health Risk Conflicting classifications of pathogenicity DIP2C-associated disorder, DIP2C-associated disorder
RS1954577994 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1954619788 DHX37 Health Risk Pathogenic 46, XY sex reversal 11
RS1954627505 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1954644231 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1954644972 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1954680920 HSPB8 Health Risk Likely pathogenic —
RS1954727159 HSPB8 Health Risk Likely pathogenic Inborn genetic diseases, Myopathy
RS1954727678 HSPB8 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS1954727878 HSPB8 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2L, Myopathy
RS1954752761 MYO7A Health Risk Pathogenic —
RS1954765607 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1954886330 EHMT1 Health Risk Pathogenic —
RS1954889657 EHMT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1954891050 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1954927143 MYO7A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1955013824 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1955015534 EHMT1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1955017383 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1955018104 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1955020297 LACC1 Health Risk Likely pathogenic Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
RS1955020359 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS1955068468 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1955070984 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1955071278 EHMT1 Health Risk Pathogenic —
RS1955074882 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS1955075568 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1955076595 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1955083613 MYO7A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1955110082 ABCC8 Health Risk Conflicting classifications of pathogenicity —
RS1955169360 MYO7A Health Risk Pathogenic —
RS1955172101 C2CD3 Health Risk Pathogenic —
RS1955175992 MYO7A Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal dominant nonsyndromic hearing loss 11
RS1955177223 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1955180601 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1955200108 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1955200396 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1955201439 EIF2B1 Health Risk Pathogenic —
RS1955206224 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1955231243 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1955238089 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1955281533 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1955319492 MYO7A Health Risk Pathogenic Hearing loss, autosomal recessive
RS1955320652 MYO7A Health Risk Pathogenic —
RS1955333327 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1955335874 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1A
RS1955341260 CYP27B1 Health Risk Pathogenic —
RS1955347155 CYP27B1 Health Risk Likely pathogenic —
RS1955367513 CYP27B1 Health Risk Pathogenic —
RS1955367536 CYP27B1 Health Risk Pathogenic —
RS1955535130 TSFM Health Risk Pathogenic —
RS1955600413 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1955655663 PLCZ1 Health Risk Pathogenic Spermatogenic failure 17, Spermatogenic failure 17
RS1955658464 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1955658642 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1955681356 ABCC8 Health Risk Pathogenic —
RS1955687009 ABCC8 Health Risk Pathogenic —
RS1955709311 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1955736908 TSFM Health Risk Pathogenic —
RS1955738689 TSFM Health Risk Pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1955739271 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1955746650 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1955759155 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 8
RS1955799198 YARS2 Health Risk Likely pathogenic —
RS1955836490 YARS2 Health Risk Pathogenic —
RS1955867564 MYO7A Health Risk Pathogenic —
RS1955941699 MYO7A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS1955943115 PAX6 Health Risk Likely pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1955965088 EXT2 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1955997471 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1955997540 TCTN2 Health Risk Likely pathogenic Meckel syndrome, type 6
RS1955999847 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS1956031029 TCTN2 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1956082270 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1956082308 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1956082403 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1956082474 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular dysplasia 1
RS1956120566 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
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