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
RS2476457200 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476465516 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2476467657 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2476467795 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2476474498 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2476478867 TET2 Health Risk Pathogenic —
RS2476478959 TET2 Health Risk Pathogenic —
RS2476479412 TET2 Health Risk Pathogenic —
RS2476480847 TET2 Health Risk Pathogenic —
RS2476480900 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2476483849 TET2 Health Risk Pathogenic —
RS2476483877 TET2 Health Risk Pathogenic —
RS2476484066 TET2 Health Risk Pathogenic —
RS2476484912 TET2 Health Risk Pathogenic —
RS2476486500 TET2 Health Risk Pathogenic —
RS2476487058 NFKB1 Health Risk Pathogenic —
RS2476487087 NFKB1 Health Risk Pathogenic —
RS2476487562 NFKB1 Health Risk Pathogenic —
RS2476490195 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476490203 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476490501 TET2 Health Risk Pathogenic —
RS2476493668 TET2 Health Risk Pathogenic —
RS2476493944 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2476494544 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2476495796 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476496611 ALPK1 Health Risk Pathogenic Retinal dystrophy, optic nerve edema
RS2476496988 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476498043 TET2 Health Risk Likely pathogenic Immunodeficiency 75, Immunodeficiency 75
RS2476498267 TET2 Health Risk Pathogenic —
RS2476498425 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2476499310 FRAS1 Health Risk Pathogenic —
RS2476499461 FRAS1 Health Risk Likely pathogenic —
RS2476499844 TET2 Health Risk Pathogenic —
RS2476499894 TET2 Health Risk Likely pathogenic —
RS2476501020 TET2 Health Risk Pathogenic —
RS2476501205 TET2 Health Risk Pathogenic —
RS2476501487 TET2 Health Risk Pathogenic —
RS2476501613 TET2 Health Risk Pathogenic —
RS2476501669 TET2 Health Risk Pathogenic —
RS2476502798 TET2 Health Risk Pathogenic —
RS2476502834 TET2 Health Risk Pathogenic —
RS2476503118 TET2 Health Risk Pathogenic —
RS2476503281 TET2 Health Risk Pathogenic —
RS2476503712 NFKB1 Health Risk Pathogenic —
RS2476504310 NFKB1 Health Risk Pathogenic —
RS2476505738 TET2 Health Risk Conflicting classifications of pathogenicity —
RS2476508282 TET2 Health Risk Pathogenic —
RS2476509596 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476510505 TET2 Health Risk Pathogenic —
RS2476513684 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2476513919 FRAS1 Health Risk Likely pathogenic —
RS2476517697 NFKB1 Health Risk Pathogenic —
RS2476517777 NFKB1 Health Risk Pathogenic —
RS2476518062 NFKB1 Health Risk Pathogenic —
RS2476518574 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2476518716 FRAS1 Health Risk Likely pathogenic —
RS2476523240 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476523755 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS2476523833 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476527079 TET2 Health Risk Pathogenic —
RS2476529732 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476529741 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476533151 TET2 Health Risk Pathogenic —
RS2476533266 TET2 Health Risk Pathogenic —
RS2476533556 TET2 Health Risk Pathogenic Third degree atrioventricular block, Third degree atrioventricular block
RS2476533686 TET2 Health Risk Pathogenic —
RS2476533813 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476533846 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Retinal dystrophy
RS2476534000 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476537310 TET2 Health Risk Pathogenic Clonal hematopoiesis, Clonal hematopoiesis
RS2476537887 TET2 Health Risk Pathogenic —
RS2476537984 TET2 Health Risk Pathogenic —
RS2476537994 TET2 Health Risk Pathogenic —
RS2476539565 NFKB1 Health Risk Likely pathogenic Common variable immunodeficiency, Immunodeficiency
RS2476539670 NFKB1 Health Risk Pathogenic —
RS2476539997 NFKB1 Health Risk Pathogenic —
RS2476540252 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2476541780 FRAS1 Health Risk Pathogenic —
RS2476544267 NFKB1 Health Risk Pathogenic —
RS2476544279 NFKB1 Health Risk Pathogenic —
RS2476546480 NFKB1 Health Risk Pathogenic —
RS2476547379 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2476547907 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476548653 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476548784 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476548951 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476562023 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2476562375 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Gastric cancer
RS2476562616 NFKB1 Health Risk Pathogenic —
RS2476562737 NFKB1 Health Risk Pathogenic —
RS2476563154 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476563282 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476567100 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476567319 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476575208 FRAS1 Health Risk Likely pathogenic —
RS2476575540 FRAS1 Health Risk Pathogenic —
RS2476579225 COL25A1 Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS2476581538 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2476583005 NFKB1 Health Risk Likely pathogenic —
RS2476584179 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
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