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
RS1565425118 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565425547 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565427457 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565427961 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565428419 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565429054 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565429102 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565430886 MYO7A Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1565433583 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS1565438488 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1565439606 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1565441341 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565441399 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565441511 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565447438 ATM Health Risk Likely pathogenic —
RS1565447611 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565452616 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1565452621 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565452687 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565452823 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565453023 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1565453029 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565454034 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1565454823 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565455033 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1565455129 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1565455297 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565455391 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS1565455778 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1565455878 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1565456465 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565457924 GRIN2B Health Risk Likely pathogenic —
RS1565459834 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1565460797 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565460853 SIK3 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Krakow type
RS1565460896 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565461414 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565461674 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565461824 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565461840 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565463203 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565463381 ATM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1565463405 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565465582 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1565465976 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565465980 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565466579 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565466585 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565469955 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS1565469959 MYO7A Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1565470139 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565473322 EPS8 Health Risk Pathogenic —
RS1565474013 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565474582 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1565478152 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1565478701 SCNN1A Health Risk Pathogenic Pseudohypoaldosteronism, type IB1
RS1565479572 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565482453 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1565485959 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565486028 ATM Health Risk Pathogenic Neoplasm, Neoplasm
RS1565486174 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1565486341 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565488675 SCNN1A Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3
RS1565489956 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565492786 IPO8 Health Risk Pathogenic VISS syndrome, IPO8-related aortopathy
RS1565493368 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565493693 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565498886 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565499093 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565499657 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565499757 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565502708 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565502999 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565503137 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565503182 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565503198 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565503246 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565509194 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565511585 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565518004 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565518246 TECTA Health Risk Pathogenic —
RS1565518539 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565518711 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565519006 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565519601 RASGRP2 Health Risk Pathogenic —
RS1565519673 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 21, Hearing loss
RS1565520117 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565520246 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565520291 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565520537 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565520560 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565520641 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565521129 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565522273 TECTA Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1565526121 SHANK2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism
RS1565526951 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565527137 VAMP1 Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS1565527140 VAMP1 Health Risk Pathogenic Myasthenic syndrome, congenital
RS1565527239 VAMP1 Health Risk Pathogenic Myasthenic syndrome, congenital
RS1565527283 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
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