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
RS2490689115 LMX1B Health Risk Likely pathogenic —
RS2490689134 LMX1B Health Risk Pathogenic/Likely pathogenic —
RS2490689232 LMX1B Health Risk Pathogenic —
RS2490689252 LMX1B Health Risk Likely pathogenic —
RS2490689989 LMX1B Health Risk Likely pathogenic LMX1B-related disorder, LMX1B-related disorder
RS2490690864 COL5A1 Health Risk Likely pathogenic COL5A1-related disorder, COL5A1-related disorder
RS2490694993 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS2490695028 LMX1B Health Risk Likely pathogenic Nail-patella-like renal disease, Nail-patella-like renal disease
RS2490697817 COL27A1 Health Risk Likely pathogenic —
RS2490698753 COL27A1 Health Risk Likely pathogenic —
RS2490700207 TPM2 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS2490701344 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS2490701553 AGPAT2 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS2490706084 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490707870 LAMC3 Health Risk Pathogenic —
RS2490714618 LAMC3 Health Risk Likely pathogenic —
RS2490714886 LAMC3 Health Risk Pathogenic —
RS2490715052 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490715100 COL5A1 Health Risk Likely pathogenic —
RS2490715483 ABL1 Health Risk Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS2490715564 LAMC3 Health Risk Likely pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS2490716828 LAMC3 Health Risk Likely pathogenic —
RS2490721602 TDRD7 Health Risk Pathogenic Cataract 36, Cataract 36
RS2490721921 ABL1 Health Risk Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS2490724038 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490727103 PRDM12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2490727959 SLC31A1 Health Risk Likely pathogenic Neurodegeneration and seizures due to copper transport defect, Neurodegeneration and seizures due to copper transport defect
RS2490728083 SLC31A1 Health Risk Pathogenic Neurodegeneration and seizures due to copper transport defect, Neurodegeneration and seizures due to copper transport defect
RS2490728660 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490743581 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS2490748562 WDR37 Health Risk Likely pathogenic Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
RS2490752550 TG Health Risk Pathogenic —
RS2490761744 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490762730 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490773984 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490774017 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490774154 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490783211 MPDZ Health Risk Pathogenic —
RS2490785037 MPDZ Health Risk Pathogenic —
RS2490785356 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490789575 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490789747 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490790026 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490790158 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490796747 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490800891 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490800900 EXOSC2 Health Risk Likely pathogenic Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
RS2490801072 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490810383 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490810566 COL5A1 Health Risk Likely pathogenic —
RS2490810702 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490814263 COL5A1 Health Risk Likely pathogenic —
RS2490818488 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490818556 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490819831 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2490823676 GBA2 Health Risk Likely pathogenic Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46
RS2490823809 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490835200 COL5A1 Health Risk Likely pathogenic —
RS2490837980 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2490841432 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490845453 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490849576 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490849827 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490850927 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490851696 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2490851746 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490851840 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490851912 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490856978 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490862344 IARS1 Health Risk Pathogenic —
RS2490864574 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2490865523 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490865574 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490873601 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490873793 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490877060 INVS Health Risk Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS2490877097 COL27A1 Health Risk Likely pathogenic —
RS2490877865 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490880088 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490880722 COL5A1 Health Risk Likely pathogenic —
RS2490880778 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2490886144 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490886728 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490887236 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2490899613 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490903076 ADAMTSL2 Health Risk Likely pathogenic Lethal short-limb skeletal dysplasia, Al Gazali type
RS2490904308 LHX3 Health Risk Likely pathogenic —
RS2490908359 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490908908 GBA2 Health Risk Likely pathogenic Hereditary spastic paraplegia 46, CEP290-related ciliopathy
RS2490909368 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490909925 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490910176 LHX3 Health Risk Likely pathogenic —
RS2490910186 LHX3 Health Risk Likely pathogenic —
RS2490910434 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490910717 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490914173 LHX3 Health Risk Likely pathogenic —
RS2490915299 LHX3 Health Risk Pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS2490915887 LHX3 Health Risk Likely pathogenic —
RS2490917462 LHX3 Health Risk Likely pathogenic —
RS2490918550 LHX3 Health Risk Pathogenic —
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