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
RS2542229310 POLR3B Health Risk Likely pathogenic Charcot-Marie-Tooth disease, demyelinating
RS2542230978 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542231195 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542232604 POLR3B;LOC100287944 Health Risk Likely pathogenic —
RS2542232606 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542232626 POLR3B Health Risk Pathogenic —
RS2542232836 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542234392 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542234686 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542234931 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542235500 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542235631 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542237400 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542239022 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542239046 SACS Health Risk Likely pathogenic —
RS2542239307 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542240703 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542242530 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542242904 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542244171 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542244595 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542250633 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542252314 POLR3B Health Risk Likely pathogenic —
RS2542253412 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542254523 LPAR6 Health Risk Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS2542254565 SACS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2542255397 LPAR6 Health Risk Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS2542256275 LPAR6 Health Risk Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS2542256460 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2542257262 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542259196 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542260874 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542261519 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542261609 LPAR6 Health Risk Pathogenic Hypotrichosis 8, Hypotrichosis 8
RS2542261623 BLOC1S6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542261887 BLOC1S6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542262920 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542264093 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542265827 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542267129 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542267414 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542268724 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542268784 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542270015 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542270559 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542270863 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542270996 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542271252 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542271399 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542272020 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542272507 SACS Health Risk Likely pathogenic —
RS2542272996 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542273765 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542273834 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542274558 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542274993 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542275698 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542276813 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542277450 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542277707 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542277959 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542279148 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542280535 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542280962 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542281828 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542281963 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542282301 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542282814 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542283183 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542284062 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542287928 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2542288376 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542288810 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2542289588 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542289602 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542289975 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542290302 SACS Health Risk Likely pathogenic —
RS2542291965 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542292506 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542292537 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542292733 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542294187 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542296358 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542297010 BLOC1S6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS2542298948 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542299283 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542300877 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2542301534 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542301829 TRPM7 Health Risk Pathogenic See cases, See cases
RS2542302296 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542310012 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542310231 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542312385 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2542312909 SACS Health Risk Likely pathogenic SACS-related disorder, SACS-related disorder
RS2542313687 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542314141 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542314342 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542315282 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2542315842 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542316628 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
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