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
RS1553369826 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553370260 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS1553370287 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553370310 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1553370324 MSH2 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS1553370345 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553370366 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553370371 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553370381 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1553370386 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553370397 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553370404 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553370431 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553370435 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553370437 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1553370443 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553370453 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553370464 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553370486 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553370518 MYCN Health Risk Pathogenic —
RS1553370869 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553370884 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553370905 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553370918 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS1553370963 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS1553370992 MYCN Health Risk Likely pathogenic —
RS1553371008 MYCN Health Risk Likely pathogenic —
RS1553372935 ABCG5 Health Risk Pathogenic —
RS1553373926 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1553375174 SLC1A4 Health Risk Pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS1553375267 ABCG8 Health Risk Likely pathogenic —
RS1553375366 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553376538 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553376558 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553376691 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553377740 DYSF Health Risk Pathogenic —
RS1553377764 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553380888 SFTPB Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS1553381934 STAMBP Health Risk Pathogenic —
RS1553381945 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1553382055 STAMBP Health Risk Pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS1553382295 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1553382319 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1553382325 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1553382678 APOB Health Risk Likely pathogenic Hypobetalipoproteinemia, Hypobetalipoproteinemia
RS1553383017 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS1553383144 DYSF Health Risk Pathogenic —
RS1553383467 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1553383473 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1553383480 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1553383898 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia
RS1553383931 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1553383983 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1553384177 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Hypercholesterolemia
RS1553384441 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia
RS1553385404 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Hypercholesterolemia
RS1553385715 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1553386360 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1553387094 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1553387422 KCNK3 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS1553387851 LHCGR Health Risk Likely pathogenic Leydig cell agenesis, Leydig cell agenesis
RS1553388067 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553389102 GFPT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1553390248 FIGLA Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS1553390600 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1553391303 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553391515 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1553394254 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1553394366 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553394475 SPAST Health Risk Pathogenic —
RS1553394497 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553394509 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553394603 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553394608 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553394620 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 4
RS1553394622 SPAST Health Risk Likely pathogenic —
RS1553395132 MYT1L Health Risk Likely pathogenic —
RS1553396088 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553396091 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS1553396092 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553396098 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553396232 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553396238 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553396293 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553396296 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553396458 ACTG2 Health Risk Pathogenic Visceral myopathy 1, ACTG2-related disorder
RS1553398334 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553398842 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553399472 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553399476 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553399493 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553399498 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553399962 ALMS1 Health Risk Likely pathogenic —
RS1553400002 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS1553400013 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553400259 POMC Health Risk Pathogenic Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency
RS1553400391 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553400437 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553400438 NRXN1 Health Risk Conflicting classifications of pathogenicity —
RS1553400675 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
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