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
RS2542317291 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542317547 TRPM7 Health Risk Pathogenic See cases, See cases
RS2542360559 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542360590 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542360661 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2542360796 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542360799 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542360825 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542360845 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542363272 ATP8A2 Health Risk Pathogenic —
RS2542363917 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542363970 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542363996 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364001 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364023 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364044 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2542364114 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364116 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364147 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364154 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364169 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364289 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364337 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364375 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542364433 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542364443 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542366657 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2542367312 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542367775 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542367847 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542367865 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS2542367876 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2542367909 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542368024 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2542368027 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542368066 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542368202 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542368243 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542368300 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542368395 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542368456 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542368476 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542368593 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542368614 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542371206 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2542373442 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373517 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373532 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373551 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373560 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542373575 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373579 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373602 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373622 RB1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542373636 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373705 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373716 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373753 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary retinoblastoma
RS2542373788 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542373809 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542375089 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary retinoblastoma
RS2542375110 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375128 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375244 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375272 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542375324 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375425 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375627 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375629 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375698 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542375766 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375805 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375867 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375992 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375996 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542375999 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542376106 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542376107 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542376154 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2542376185 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542376200 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542380287 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS2542380737 SPTAN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 5
RS2542380807 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2542381089 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2542381549 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542381555 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542381578 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542384109 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2542384239 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542384259 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542384271 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542384306 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2542384326 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542384410 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542385486 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2542390721 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542391320 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542391355 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542391731 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
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