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
RS1576367919 STAG1 Health Risk Likely pathogenic —
RS1576373932 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1576379332 TTN Health Risk Likely pathogenic —
RS1576387876 MRAS Health Risk Likely pathogenic Noonan syndrome 11, RASopathy
RS1576387885 MRAS Health Risk Likely pathogenic Noonan syndrome 11, RASopathy
RS1576390243 SMARCC1 Health Risk Likely pathogenic; risk factor Congenital hydrocephalus, Hydrocephalus
RS1576397633 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1576401641 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1576402791 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1576402832 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1576408050 SMARCC1 Health Risk Likely pathogenic Congenital hydrocephalus, Congenital hydrocephalus
RS1576408057 SMARCC1 Health Risk Likely pathogenic; risk factor Congenital hydrocephalus, Hydrocephalus
RS1576412227 SMARCC1 Health Risk Likely pathogenic Congenital hydrocephalus, Congenital hydrocephalus
RS1576415390 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1576422965 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS1576423296 TTN Health Risk Likely pathogenic —
RS1576426439 SMARCC1 Health Risk Likely pathogenic Congenital hydrocephalus, Congenital hydrocephalus
RS1576428862 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS1576428882 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS1576441321 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1576444504 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS1576457869 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1576457876 COL4A4 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1576461647 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1576462792 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1576463100 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1576463632 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1576463663 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1576465155 COL3A1 Health Risk Pathogenic Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS1576465252 ARL6 Health Risk Likely pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS1576465489 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1576467025 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS1576467133 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1576467144 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1576467391 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1576468160 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1576468332 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1576468385 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1576468562 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1576469513 ZIC1 Health Risk Likely pathogenic —
RS1576469579 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1576470032 COL3A1 Health Risk Likely pathogenic —
RS1576470734 ZIC1 Health Risk Pathogenic —
RS1576470749 ZIC1 Health Risk Pathogenic Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
RS1576471840 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1576471851 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1576472316 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1576472890 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1576473569 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1576473641 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1576474929 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1576484361 CACNA1D Health Risk Likely pathogenic Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness
RS1576486164 COL4A4 Health Risk Pathogenic —
RS1576493931 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1576502045 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1576517390 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1576517517 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1576517675 DHX30 Health Risk Pathogenic Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language
RS1576520630 TTN Health Risk Likely pathogenic —
RS1576521473 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1576526285 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1576540110 TTN Health Risk Pathogenic —
RS1576543528 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1576550450 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1576552712 BFSP2 Health Risk Pathogenic Cataract 12 multiple types, Cataract 12 multiple types
RS1576559094 IQCB1 Health Risk Pathogenic Renal dysplasia and retinal aplasia, Renal dysplasia and retinal aplasia
RS1576571835 COL4A4 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1576600442 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1576606182 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1576606282 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1576608220 TTN Health Risk Likely pathogenic —
RS1576608720 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1576610000 P4HTM Health Risk Pathogenic Hypotonia, hypoventilation
RS1576623358 CLRN1 Health Risk Pathogenic —
RS1576623563 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1576631624 CLRN1 Health Risk Pathogenic Usher syndrome type 3, Usher syndrome type 3
RS1576651623 CLRN1 Health Risk Pathogenic Usher syndrome type 3, Usher syndrome type 3
RS1576656734 STAG1 Health Risk Pathogenic Intellectual disability, autosomal dominant 47
RS1576660495 NPHP3 Health Risk Pathogenic Nephronophthisis 3, NPHP3-related Meckel-like syndrome
RS1576682880 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 3
RS1576682959 NPHP3 Health Risk Likely pathogenic —
RS1576685753 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1576687466 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1576691273 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1576695735 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1576695913 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS1576704514 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1576704575 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1576708708 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS1576721522 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1576723006 GFM1 Health Risk Pathogenic —
RS1576741993 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1576742510 TTN Health Risk Likely pathogenic —
RS1576744250 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1576744275 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS1576744529 GATA2 Health Risk Likely pathogenic GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome
RS1576744575 GATA2 Health Risk Likely pathogenic —
RS1576744594 GATA2 Health Risk Likely pathogenic —
RS1576744604 GATA2 Health Risk Likely pathogenic —
RS1576745225 GATA2 Health Risk Pathogenic Myelodysplastic syndrome, GATA2 deficiency with susceptibility to MDS/AML
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