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
RS1553400685 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553400709 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553400727 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553400778 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553400785 ALMS1 Health Risk Likely pathogenic —
RS1553400956 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553401634 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1553401827 DGUOK Health Risk Likely pathogenic —
RS1553402750 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1553403049 BCL11A Health Risk Pathogenic —
RS1553403262 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1553403282 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403303 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553403321 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403363 BCL11A Health Risk Pathogenic —
RS1553403401 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403551 BCL11A Health Risk Pathogenic —
RS1553403560 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403585 ALMS1 Health Risk Pathogenic Retinal dystrophy, Alstrom syndrome
RS1553403596 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553403598 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403653 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403656 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403685 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403687 DGUOK Health Risk Pathogenic —
RS1553403688 BCL11A Health Risk Pathogenic —
RS1553403736 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS1553403745 BCL11A Health Risk Likely pathogenic —
RS1553403762 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403851 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403864 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403879 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553403882 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403917 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553403989 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404020 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404028 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404066 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404109 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404150 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404156 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404180 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404194 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553404220 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404233 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404252 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404277 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404283 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1553404305 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404310 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Stickler syndrome
RS1553404337 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404358 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1553404368 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404377 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404395 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404423 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404426 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404457 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404473 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553404662 ALMS1 Health Risk Pathogenic —
RS1553405529 ST3GAL5 Health Risk Likely pathogenic —
RS1553405795 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1553406772 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553407942 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1553408068 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553408074 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553408122 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553408127 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1553408136 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553408158 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553408211 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553408245 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS1553408267 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1553408306 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553408378 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553408380 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1553408388 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553408408 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553408413 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS1553408414 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553408467 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1553408469 MSH6 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553408603 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1553409617 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553409656 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553409683 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553409686 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553409691 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1553409710 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Retinal dystrophy
RS1553409715 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1553409764 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553409774 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553409778 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1553409851 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553409901 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1553410230 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS1553410300 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553410307 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553410342 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1553410852 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
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