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
RS104895305 MVK Health Risk Likely pathogenic Hyperimmunoglobulin D with periodic fever, Deficiency of mevalonate kinase
RS104895306 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895307 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895308 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895311 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895313 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever
RS104895315 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895316 MVK Health Risk Likely pathogenic Hyperimmunoglobulin D with periodic fever, Retinal dystrophy
RS104895317 MVK Health Risk Pathogenic Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS104895318 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Autoinflammatory syndrome
RS104895319 MVK Health Risk Pathogenic Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS104895321 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895322 MVK Health Risk Pathogenic Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS104895323 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever
RS104895324 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895326 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS104895329 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895332 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895334 MVK Health Risk Pathogenic Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS104895335 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895339 MVK Health Risk Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895342 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895352 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895358 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895360 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895362 MVK Health Risk Likely pathogenic Porokeratosis 3, disseminated superficial actinic type
RS104895363 MVK Health Risk Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895364 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Autoinflammatory syndrome
RS104895366 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895368 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895369 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895370 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895373 MVK Health Risk Pathogenic Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS104895380 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895382 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS104895389 NLRP3 Health Risk Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
RS104895392 NLRP3 Health Risk Likely pathogenic Familial cold autoinflammatory syndrome 1, Familial cold autoinflammatory syndrome 1
RS104895398 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
RS104895418 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, PSTPIP1-related disorder
RS104895421 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Autoinflammatory syndrome
RS104895422 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Autoinflammatory syndrome
RS104895423 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Autoinflammatory syndrome
RS104895425 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895427 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Yao syndrome
RS104895430 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895431 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895432 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895434 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895438 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895443 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895452 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895454 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895456 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895457 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895460 NOD2 Health Risk Pathogenic Blau syndrome, Blau syndrome
RS104895461 NOD2 Health Risk Likely pathogenic Blau syndrome, Regional enteritis
RS104895462 NOD2 Health Risk Pathogenic Blau syndrome, Regional enteritis
RS104895464 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895467 NOD2 Health Risk Conflicting classifications of pathogenicity; association Blau syndrome, Inflammatory bowel disease 1
RS104895469 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895472 NOD2 Health Risk Pathogenic Blau syndrome, Blau syndrome
RS104895473 NOD2 Health Risk Pathogenic/Likely pathogenic Blau syndrome, Regional enteritis
RS104895475 NOD2 Health Risk Pathogenic Blau syndrome, Regional enteritis
RS104895476 NOD2 Health Risk Pathogenic Blau syndrome, Regional enteritis
RS104895477 NOD2 Health Risk Pathogenic Blau syndrome, Regional enteritis
RS104895478 NOD2 Health Risk Pathogenic Blau syndrome, Blau syndrome
RS104895479 NOD2 Health Risk Pathogenic/Likely pathogenic Blau syndrome, Regional enteritis
RS104895481 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS104895484 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895486 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS104895489 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Yao syndrome
RS104895494 NOD2 Health Risk Pathogenic Blau syndrome, Regional enteritis
RS104895500 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS104895502 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895503 NLRP7 Health Risk Likely pathogenic Hydatidiform mole, recurrent
RS104895504 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895505 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895506 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895512 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895524 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS104895525 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895526 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS104895529 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS104895530 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895547 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895548 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895549 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895553 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895554 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS104895564 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS104895565 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS104895566 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, NLRP12-related disorder
RS104895570 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS1048990 PSMA6 Health Risk Benign; risk factor Myocardial infarction, susceptibility to
RS1049041921 CAMTA1 Health Risk Likely pathogenic
RS1049067352 SETD5 Health Risk Conflicting classifications of pathogenicity
RS1049082567 PNPT1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13
RS1049091691 COL9A1 Health Risk Pathogenic COL9A1-related disorder, COL9A1-related disorder
RS1049122968 ANO10 Health Risk Conflicting classifications of pathogenicity
RS1049128278 KCNK4 Health Risk Conflicting classifications of pathogenicity
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