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
RS1573087364 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS1573094617 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573094789 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573096202 BCL11A Health Risk Pathogenic —
RS1573098889 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1573100371 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1573109761 BCL11A Health Risk Pathogenic/Likely pathogenic Dias-Logan syndrome, Neurodevelopmental delay
RS1573118105 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573120705 SPAST Health Risk Likely pathogenic —
RS1573121594 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573121790 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573127804 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1573138313 DYSF Health Risk Likely pathogenic Distal lower limb muscle weakness, Miyoshi muscular dystrophy 1
RS1573138336 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1573139443 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573139616 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS1573139642 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1573142475 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573142616 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573142681 SPAST Health Risk Likely pathogenic —
RS1573156283 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS1573156341 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573156433 SPAST Health Risk Likely pathogenic —
RS1573157000 SPAST Health Risk Pathogenic —
RS1573157108 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573167562 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1573174147 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Melanoma
RS1573174859 TPO Health Risk Likely pathogenic —
RS1573176526 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573186691 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS1573214163 CALM2 Health Risk Pathogenic Long QT syndrome 15, Long QT syndrome 1
RS1573214371 CALM2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 1, Long QT syndrome 15
RS1573223126 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1573250294 POMC Health Risk Pathogenic Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency
RS1573254045 POMC Health Risk Pathogenic Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency
RS1573261820 ZAP70 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Combined immunodeficiency due to ZAP70 deficiency
RS1573262398 ZAP70 Health Risk Pathogenic Combined immunodeficiency, Combined immunodeficiency
RS1573274915 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Glaucoma 3A
RS1573276416 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS1573291900 DNMT3A Health Risk Likely pathogenic —
RS1573297136 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1573300872 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1573313314 DNMT3A Health Risk Pathogenic —
RS1573319752 POU3F3 Health Risk Pathogenic/Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS1573320043 POU3F3 Health Risk Pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS1573320413 POU3F3 Health Risk Pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS1573320988 POU3F3 Health Risk Pathogenic/Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS1573321115 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Inborn genetic diseases
RS1573328713 HNRNPU Health Risk Conflicting classifications of pathogenicity See cases, Developmental and epileptic encephalopathy
RS1573330458 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1573330502 HNRNPU Health Risk Likely pathogenic —
RS1573337552 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1573337948 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS1573338529 HNRNPU Health Risk Likely pathogenic —
RS1573338559 DNMT3A Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1573340335 DNMT3A Health Risk Likely pathogenic Heyn-Sproul-Jackson syndrome, Heyn-Sproul-Jackson syndrome
RS1573340475 DNMT3A Health Risk Pathogenic Heyn-Sproul-Jackson syndrome, Heyn-Sproul-Jackson syndrome
RS1573369925 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1573369929 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1573374828 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1573380429 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1573396982 EIF2AK3 Health Risk Pathogenic —
RS1573399606 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1573422612 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573422744 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573423213 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573423412 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573424223 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1573424393 NRXN1 Health Risk Likely pathogenic —
RS1573436092 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573436369 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS1573436408 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573436418 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573436461 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573436801 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573436948 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573437064 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch syndrome 1
RS1573437173 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS1573440435 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573440792 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573440880 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573441348 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Lynch syndrome 1
RS1573441776 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573441851 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573442039 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573442055 PROC Health Risk Likely pathogenic Thromboembolism, Thromboembolism
RS1573442100 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573444020 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS1573446496 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573446614 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1573446832 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573451078 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573451108 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573451339 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573451595 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573451658 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573451662 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573454278 ANAPC1 Health Risk Pathogenic Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
RS1573456437 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573456772 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
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