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
RS1555069264 MYO7A Health Risk Pathogenic —
RS1555069272 MYO7A Health Risk Pathogenic —
RS1555069337 MYO7A Health Risk Pathogenic —
RS1555069514 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555069537 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555069552 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555069560 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555069575 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555069577 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555069617 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555069640 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555069653 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555069657 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555069665 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555069677 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555069815 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555069881 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555070286 MYO7A Health Risk Pathogenic —
RS1555070451 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1555070678 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555070694 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555070719 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555070739 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555070745 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555070781 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555070786 ATM Health Risk Likely pathogenic —
RS1555070805 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555070832 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555070941 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555070947 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555070953 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555070980 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555070994 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555071002 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555071060 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555071075 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555071103 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555071109 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555071308 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555071484 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1555071503 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1555071691 CFAP300 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1555072008 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555072012 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555072063 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555072299 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555072480 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555072492 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555072574 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555072861 LRP5 Health Risk Pathogenic —
RS1555073065 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555073069 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555073109 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS1555073111 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555073128 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555073243 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555073282 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555073529 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555073553 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555074545 ARCN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555074807 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555074846 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555074971 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555074976 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS1555075037 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555075567 LRP5 Health Risk Likely pathogenic High bone mass, High bone mass
RS1555075595 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555075617 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555075658 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555075690 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555075721 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555075727 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555075781 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555075846 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555076918 DYNC2H1 Health Risk Likely pathogenic —
RS1555076948 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555077194 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1555077255 LRP5 Health Risk Pathogenic —
RS1555077319 MYO7A Health Risk Pathogenic —
RS1555078815 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Usher syndrome type 1B
RS1555078942 MYO7A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1555078946 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS1555079548 MYO7A Health Risk Pathogenic —
RS1555080708 TENM4 Health Risk Likely pathogenic —
RS1555080760 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555081345 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1555081426 MADD Health Risk Likely pathogenic —
RS1555082041 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS1555082048 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555082050 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555082145 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555082160 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555082164 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555082186 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555082253 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555082257 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555082344 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555082470 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1555082575 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1555082994 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
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