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
RS2473227575 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473227839 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473228114 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473228958 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473240506 SI Health Risk Likely pathogenic SI-related disorder, SI-related disorder
RS2473244149 SI Health Risk Likely pathogenic —
RS2473257377 CASR Health Risk Pathogenic Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis
RS2473257829 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2473258053 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473258239 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473258614 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473262415 PLOD2 Health Risk Pathogenic —
RS2473265518 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473271217 PLOD2 Health Risk Pathogenic —
RS2473271725 P2RY12 Health Risk Likely pathogenic Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8
RS2473272655 COL4A4 Health Risk Pathogenic —
RS2473272760 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS2473272832 COL4A4 Health Risk Pathogenic —
RS2473272943 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2473275307 SI Health Risk Pathogenic —
RS2473275975 CASR Health Risk Likely pathogenic CASR-related disorder, CASR-related disorder
RS2473276491 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473276542 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473276557 COL4A4 Health Risk Pathogenic Autosomal dominant Alport syndrome, Inborn genetic diseases
RS2473276800 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473277214 CASR Health Risk Likely pathogenic —
RS2473277388 P2RY12 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8
RS2473277536 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473277634 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473277883 CASR Health Risk Likely pathogenic CASR-related disorder, CASR-related disorder
RS2473278040 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2473279667 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2473280121 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473280480 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473280509 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2473281044 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473281173 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473281810 CASR Health Risk Conflicting classifications of pathogenicity CASR-related disorder, Nephrolithiasis/nephrocalcinosis
RS2473281900 SI Health Risk Likely pathogenic —
RS2473282291 SI Health Risk Likely pathogenic SI-related disorder, SI-related disorder
RS2473282609 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2473284144 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473288479 SI Health Risk Pathogenic —
RS2473296292 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS2473296314 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS2473314623 SI Health Risk Pathogenic —
RS2473317311 SI Health Risk Likely pathogenic SI-related disorder, SI-related disorder
RS2473318061 ATR Health Risk Pathogenic —
RS2473327597 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473327728 ADCY5 Health Risk Pathogenic —
RS2473328198 ATR Health Risk Pathogenic —
RS2473328425 PLOD2 Health Risk Pathogenic —
RS2473328720 ATR Health Risk Likely pathogenic —
RS2473342112 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473343738 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473347693 SI Health Risk Likely pathogenic —
RS2473349464 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473350308 COL4A4 Health Risk Pathogenic —
RS2473351517 SI Health Risk Pathogenic —
RS2473354582 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2473355271 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473356749 ATR Health Risk Pathogenic —
RS2473357313 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473357970 COL4A4 Health Risk Likely pathogenic —
RS2473358472 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS2473367392 SLC7A14 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2473367671 ATR Health Risk Pathogenic/Likely pathogenic —
RS2473380542 ATR Health Risk Pathogenic —
RS2473381097 ATR Health Risk Pathogenic —
RS2473397144 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2473397427 COL4A4 Health Risk Pathogenic —
RS2473398886 ATR Health Risk Pathogenic —
RS2473400519 COL4A4 Health Risk Likely pathogenic COL4A4-related disorder, COL4A4-related disorder
RS2473411186 ATR Health Risk Pathogenic —
RS2473418793 SI Health Risk Pathogenic —
RS2473421946 SI Health Risk Pathogenic —
RS2473425708 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS2473426112 BCHE Health Risk Pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS2473426822 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2473427253 SI Health Risk Pathogenic —
RS2473429555 ATR Health Risk Pathogenic —
RS2473429687 ATR Health Risk Pathogenic —
RS2473432528 SI Health Risk Pathogenic —
RS2473436419 SI Health Risk Pathogenic —
RS2473438329 SI Health Risk Pathogenic —
RS2473446366 ATR Health Risk Pathogenic —
RS2473456927 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473461451 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473466976 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2473470274 SAMD7 Health Risk Pathogenic Macular dystrophy with or without cone dysfunction, Macular dystrophy with or without cone dysfunction
RS2473480338 SAMD7 Health Risk Pathogenic MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION
RS2473487440 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2473501928 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473502883 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2473511125 PIK3CA Health Risk Pathogenic/Likely pathogenic PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome
RS2473511270 PIK3CA Health Risk Likely pathogenic PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome
RS2473512064 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473524076 PIK3CA Health Risk Pathogenic PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome
RS2473553457 MED12L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2473557363 GHSR Health Risk Likely pathogenic —
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