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
RS1678619347 SPTBN1 Health Risk Pathogenic Developmental delay, impaired speech
RS1678753372 FBXO11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1678753568 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678753761 SPAST Health Risk Pathogenic —
RS1678756927 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678758382 SPAST Health Risk Pathogenic —
RS1678758592 SPAST Health Risk Pathogenic —
RS1678758915 SPAST Health Risk Pathogenic —
RS1678759023 SPAST Health Risk Pathogenic —
RS1678759130 SPAST Health Risk Pathogenic —
RS1678759604 SPAST Health Risk Pathogenic —
RS1678762730 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678765220 SPAST Health Risk Likely pathogenic —
RS1678801811 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678803052 SPAST Health Risk Pathogenic —
RS1678803263 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678805683 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678805865 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678806430 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678808584 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678809494 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678809927 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678810039 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678825469 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678826101 SPAST Health Risk Pathogenic —
RS1678826642 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1678828583 SPAST Health Risk Likely pathogenic —
RS1679148969 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1679162266 NPHP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome with renal defect, Nephronophthisis
RS1679188636 ARV1 Health Risk Likely pathogenic —
RS1679217117 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679218212 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679218434 PTPN4 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1679263902 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679264713 SPAST Health Risk Pathogenic —
RS1679265391 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679301117 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1679366951 MPV17 Health Risk Pathogenic —
RS1679496794 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1679497709 MPV17 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, axonal
RS1679514298 MPV17 Health Risk Pathogenic —
RS1679543195 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679543364 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679543653 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679543897 SPAST Health Risk Pathogenic —
RS1679553611 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679553997 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679556566 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS1679557890 SPAST Health Risk Pathogenic —
RS1679558360 SPAST Health Risk Likely pathogenic —
RS1679558544 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679568664 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS1679584792 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1679632817 TTC7A Health Risk Likely pathogenic —
RS1679726949 DISP1 Health Risk Conflicting classifications of pathogenicity DISP1-related disorder, DISP1-related disorder
RS1679732948 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1679766907 NBAS Health Risk Pathogenic —
RS1679840658 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1679840748 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1679843325 ATP6V1B1 Health Risk Pathogenic —
RS1679843577 ATP6V1B1 Health Risk Likely pathogenic —
RS1679845277 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS1679897519 MPV17 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS1679916151 SPAST Health Risk Pathogenic —
RS1679958581 NRXN1 Health Risk Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1680005340 LHCGR;STON1-GTF2A1L Health Risk Likely pathogenic Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS1680011412 TBCE Health Risk Likely pathogenic —
RS1680038424 NBAS Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1680042817 LHCGR Health Risk Likely pathogenic Leydig cell agenesis, Leydig cell agenesis
RS1680053234 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS1680077561 NBAS Health Risk Pathogenic —
RS1680093659 CHRM3 Health Risk Pathogenic Prune belly syndrome, Prune belly syndrome
RS1680162460 NBAS Health Risk Pathogenic —
RS1680171310 NBAS Health Risk Likely pathogenic —
RS1680184249 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1680185365 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1680192455 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Visceral myopathy 1
RS1680245631 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS1680275439 COX20 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 11
RS1680453822 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 11A (Zellweger)
RS1680484812 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1680488861 ATP6V1B1 Health Risk Likely pathogenic ATP6V1B1-related disorder, Renal tubular acidosis with progressive nerve deafness
RS1680515946 ATP6V1B1 Health Risk Likely pathogenic —
RS1680569476 ATP6V1B1 Health Risk Pathogenic —
RS1680574380 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1680591355 ATP6V1B1 Health Risk Pathogenic —
RS1680630376 DGUOK Health Risk Pathogenic —
RS1680634325 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1680642791 ATP6V1B1 Health Risk Pathogenic —
RS1680653195 HNRNPU Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1680665652 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1680670309 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis, Renal tubular acidosis with progressive nerve deafness
RS1680670991 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1680672685 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1680673822 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1680675492 HNRNPU Health Risk Pathogenic —
RS1680676671 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1680684706 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1680684866 HNRNPU Health Risk Pathogenic —
RS1680691597 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
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