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
RS2492671663 PTF1A Health Risk Pathogenic Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
RS2492677971 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS2492679787 COX15 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS2492694754 FRA10AC1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with growth retardation, dysmorphic facies
RS2492707413 COX15 Health Risk Pathogenic —
RS2492707758 COX15 Health Risk Pathogenic —
RS2492707791 COX15 Health Risk Likely pathogenic —
RS2492721228 COX15 Health Risk Pathogenic —
RS2492722405 COX15 Health Risk Pathogenic —
RS2492722994 COX15 Health Risk Pathogenic —
RS2492726078 COX15 Health Risk Pathogenic —
RS2492726663 COX15 Health Risk Pathogenic —
RS2492731216 C10orf67 Health Risk Pathogenic Pancreatic agenesis 2, Pancreatic agenesis 2
RS2492731708 COX15 Health Risk Likely pathogenic —
RS2492734911 COX15 Health Risk Pathogenic —
RS2492740075 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS2492743120 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS2492746592 COX15 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2492747662 COX15 Health Risk Pathogenic —
RS2492748621 TCTN3 Health Risk Pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS2492752964 TCTN3 Health Risk Likely pathogenic Joubert syndrome 18, Joubert syndrome 18
RS2492753291 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS2492759374 SGPL1 Health Risk Pathogenic —
RS2492760878 TCTN3 Health Risk Pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS2492761413 TCTN3 Health Risk Pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS2492761440 TCTN3 Health Risk Likely pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS2492762089 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS2492765537 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS2492770867 PDZD7 Health Risk Pathogenic —
RS2492777227 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS2492777637 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS2492780008 SUFU Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Basal cell nevus syndrome 2
RS2492780262 SUFU Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2492780272 SUFU Health Risk Likely pathogenic Medulloblastoma, Gorlin syndrome
RS2492782810 PDZD7 Health Risk Pathogenic/Likely pathogenic Deafness, Deafness
RS2492782878 PDZD7 Health Risk Pathogenic Usher syndrome, type IIC
RS2492784051 PDZD7 Health Risk Pathogenic —
RS2492784558 PDZD7 Health Risk Pathogenic —
RS2492789659 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2492790282 TCTN3 Health Risk Pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS2492790302 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2492790396 SUFU Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2492795223 PDZD7 Health Risk Pathogenic —
RS2492796553 LRMDA Health Risk Likely pathogenic —
RS2492798769 SGPL1 Health Risk Likely pathogenic —
RS2492801872 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2492804665 SGPL1 Health Risk Pathogenic —
RS2492804842 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS2492808478 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS2492811004 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS2492811707 SIGMAR1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
RS2492813518 SGPL1 Health Risk Likely pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS2492813605 ABCC2 Health Risk Pathogenic —
RS2492821542 PDZD7 Health Risk Likely pathogenic —
RS2492822470 CDH23 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2492822533 CDH23 Health Risk Pathogenic —
RS2492822585 PDZD7 Health Risk Pathogenic —
RS2492823196 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2492825486 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS2492828821 SIGMAR1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
RS2492830006 PCBD1 Health Risk Likely pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS2492831158 DNAJC12 Health Risk Pathogenic —
RS2492832243 PCBD1 Health Risk Pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS2492833589 PCBD1 Health Risk Likely pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS2492833598 PCBD1 Health Risk Pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS2492840455 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2492840553 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2492841066 BLNK Health Risk Likely pathogenic Agammaglobulinemia 4, autosomal recessive
RS2492841473 ABCC2 Health Risk Likely pathogenic —
RS2492841988 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2492842718 ABCC2 Health Risk Pathogenic —
RS2492843112 PCDH15 Health Risk Pathogenic —
RS2492843419 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2492843561 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2492843794 ABCC2 Health Risk Likely pathogenic —
RS2492846692 ABCC2 Health Risk Pathogenic —
RS2492846710 ABCC2 Health Risk Likely pathogenic —
RS2492847060 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS2492858015 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492858066 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492858501 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492859908 ABCC2 Health Risk Pathogenic —
RS2492860078 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS2492860700 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2492861648 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492861889 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492861943 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492862330 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492862390 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492862494 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492862629 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492863993 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492863998 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492864348 GALT Health Risk Likely pathogenic GALT-related disorder, GALT-related disorder
RS2492865820 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS2492866246 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492866563 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492866691 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492866721 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492867642 ABCC2 Health Risk Pathogenic —
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