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
RS2511197169 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511197297 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511197396 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511197570 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511197628 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2511197777 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511197807 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511198096 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511204966 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511204987 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511205258 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511205378 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511209939 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511210153 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511210229 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511210490 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511210759 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511210964 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511213147 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511213296 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS2511213406 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511213480 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511213538 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511213925 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511214292 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511214388 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511214670 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511217778 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511217914 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511218341 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511218496 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511220896 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511221073 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511221368 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511221794 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511222459 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511222745 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511222768 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511223044 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511224829 LAMA3 Health Risk Pathogenic Laryngo-onycho-cutaneous syndrome, Laryngo-onycho-cutaneous syndrome
RS2511224897 LAMA3 Health Risk Pathogenic —
RS2511225021 LAMA3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2511225088 LAMA3 Health Risk Pathogenic —
RS2511225579 LAMA3 Health Risk Pathogenic —
RS2511226024 LAMA3 Health Risk Pathogenic Laryngo-onycho-cutaneous syndrome, Laryngo-onycho-cutaneous syndrome
RS2511226037 LAMA3 Health Risk Likely pathogenic —
RS2511226343 TDRD9 Health Risk Pathogenic —
RS2511229476 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2511230006 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511230031 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511230102 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511230156 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511230353 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511233408 MYO5B Health Risk Pathogenic —
RS2511234717 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511234836 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2511234937 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511234988 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511235295 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511235321 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511235412 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511235793 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511238321 MYO5B Health Risk Pathogenic —
RS2511240699 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511240834 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511240863 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511241115 MYO5B Health Risk Pathogenic —
RS2511242132 RPL17;RPL17-C18orf32 Health Risk Likely pathogenic 10 conditions, 10 conditions
RS2511243031 LAMA3 Health Risk Pathogenic —
RS2511247912 SETBP1 Health Risk Pathogenic —
RS2511249830 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511249838 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511249901 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511250025 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511259913 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2511262517 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511262593 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511262669 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511262763 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511262780 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511262796 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511265189 MYO5B Health Risk Pathogenic/Likely pathogenic —
RS2511270896 MYO5B Health Risk Pathogenic —
RS2511270909 MYO5B Health Risk Pathogenic —
RS2511271496 LAMA3 Health Risk Pathogenic Epidermolysis bullosa, junctional 2A
RS2511272040 LAMA3 Health Risk Pathogenic Epidermolysis bullosa, junctional 2B
RS2511275309 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511275485 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511275889 NPC1 Health Risk Pathogenic —
RS2511275904 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511275951 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511276304 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511276931 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511276986 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511276992 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2511277102 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511279303 ELP2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 58
RS2511282212 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511282261 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511282463 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
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