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
RS2106341434 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106341460 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106342311 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106343198 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2106343479 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106344225 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106346033 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2106348112 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106348160 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106348255 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2106348318 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2106350184 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2106350905 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106353572 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106354296 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106354449 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2106354681 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2106355380 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS2106361236 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106363697 TRAF3IP1 Health Risk Pathogenic —
RS2106364423 TRAF3IP1 Health Risk Pathogenic —
RS2106366689 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106367443 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106369643 NHEJ1 Health Risk Likely pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS2106383164 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2106387246 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2106387939 COL6A3 Health Risk Likely pathogenic —
RS2106388332 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106395478 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2106403305 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2106426285 SCN9A Health Risk Pathogenic Primary erythromelalgia, Primary erythromelalgia
RS2106426576 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2106427278 AGXT Health Risk Pathogenic —
RS2106427288 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2106427637 AGXT Health Risk Likely pathogenic —
RS2106428645 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2106428650 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS2106429448 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2106429472 AGXT Health Risk Likely pathogenic —
RS2106429490 AGXT Health Risk Likely pathogenic —
RS2106429906 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2106430885 AGXT Health Risk Pathogenic —
RS2106430919 AGXT Health Risk Pathogenic —
RS2106430924 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2106431706 AGXT Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2106460925 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2106461311 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2106469123 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2106469561 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2106471095 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2106479076 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2106486889 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2106487245 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2106492882 ITPR1 Health Risk Likely pathogenic Gillespie syndrome, Gillespie syndrome
RS2106492941 ITPR1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16
RS2106493110 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS2106494596 ITPR1 Health Risk Likely pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS2106506584 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2106514698 FN1 Health Risk Pathogenic —
RS2106527836 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS2106636277 C2orf69 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
RS2106636278 C2orf69 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
RS2106636543 C2orf69 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
RS2106636544 C2orf69 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
RS2106636545 C2orf69 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
RS2106637622 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2106640003 CACNA2D2 Health Risk Pathogenic Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay
RS2106640384 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2106642261 SETD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2106648140 ADAMTS9 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2106652662 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2106654236 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2106654966 FLNB Health Risk Pathogenic —
RS2106661644 CACNA2D2 Health Risk Likely pathogenic Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay
RS2106664189 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2106672523 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2106675579 SETD2 Health Risk Pathogenic/Likely pathogenic —
RS2106683989 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2106685214 SMARCC1 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2106689406 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2106702374 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2106710726 SETD2 Health Risk Likely pathogenic SETD2-related disorder, Luscan-Lumish syndrome
RS2106770574 NDUFAF3 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 18
RS2106787058 TMIE Health Risk Likely pathogenic Ear malformation, Ear malformation
RS2106802170 QRICH1 Health Risk Conflicting classifications of pathogenicity Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106809795 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS2106809957 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2106810015 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2106812365 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106813640 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106814058 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106854788 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2106854800 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106855069 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106862871 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106862882 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Inborn genetic diseases
RS2106863052 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106863220 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106863254 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2106865 ABCC8 Health Risk Conflicting classifications of pathogenicity Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia
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