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
RS2521764639 SMARCA1 Health Risk Likely pathogenic Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability
RS2521767531 AHDC1 Health Risk Pathogenic —
RS2521775937 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS2521786501 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521788066 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS2521790020 NSDHL Health Risk Likely pathogenic CK syndrome, Child syndrome
RS2521791712 DDX3Y Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2521795034 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS2521805573 CSF3R Health Risk Likely pathogenic —
RS2521805596 DDX3Y Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2521805721 DDX3Y Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2521806004 PUM1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2521807600 NSDHL Health Risk Conflicting classifications of pathogenicity Child syndrome, Child syndrome
RS2521809031 DDX3Y Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2521812104 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521812360 DMD Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS2521812764 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2521816926 NSDHL Health Risk Conflicting classifications of pathogenicity Child syndrome, CK syndrome
RS2521824187 SBF1 Health Risk Pathogenic —
RS2521824422 SBF1 Health Risk Likely pathogenic —
RS2521826589 PEX14 Health Risk Likely pathogenic Peroxisome biogenesis disorder, complementation group K
RS2521827233 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS2521830541 AHDC1 Health Risk Pathogenic —
RS2521832108 CSF3R Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS2521832114 CSF3R Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS2521836891 SBF1 Health Risk Pathogenic —
RS2521838917 OCRL Health Risk Likely pathogenic Dent disease type 2, Dent disease type 2
RS2521838949 OCRL Health Risk Likely pathogenic Dent disease type 2, Dent disease type 2
RS2521847008 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS2521851616 DOCK11 Health Risk Pathogenic DOCK11 deficiency, Autoinflammatory disease
RS2521855515 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS2521855715 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS2521855742 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521857044 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS2521859081 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS2521860914 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521863075 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521864082 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521864211 AHDC1 Health Risk Pathogenic —
RS2521865105 AHDC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2521867689 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Progressive muscular dystrophy
RS2521868351 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521870550 SRY Health Risk Pathogenic 46, XY sex reversal 1
RS2521871511 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521871782 - Health Risk Pathogenic 46, XY sex reversal 1
RS2521871783 - Health Risk Pathogenic 46, XY sex reversal 1
RS2521872975 OCRL Health Risk Pathogenic OCRL-related disorder, OCRL-related disorder
RS2521873170 OCRL Health Risk Likely pathogenic Dent disease type 2, Dent disease type 2
RS2521873405 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521875077 AHDC1 Health Risk Pathogenic —
RS2521877464 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521877934 OCRL Health Risk Likely pathogenic —
RS2521878560 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521879319 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS2521881333 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521885841 DOCK11 Health Risk Pathogenic DOCK11 deficiency, Autoinflammatory disease
RS2521887396 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521888708 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS2521888798 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521889054 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521889385 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521889422 OCRL Health Risk Pathogenic Dent disease type 2, Thyroid cancer
RS2521889771 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521890137 OCRL Health Risk Pathogenic —
RS2521890316 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521890405 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521895048 GPC3 Health Risk Likely pathogenic Wilms tumor 1, Thyroid cancer
RS2521895087 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2521895386 GPC3 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS2521895947 GPC3 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS2521896168 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521897847 RERE Health Risk Pathogenic —
RS2521898391 AHDC1 Health Risk Pathogenic —
RS2521899841 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521900262 WNK3 Health Risk Pathogenic Neurodevelopmental disorder, Prieto syndrome
RS2521902337 SBF1 Health Risk Conflicting classifications of pathogenicity SBF1-related disorder, SBF1-related disorder
RS2521902609 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521903187 AHDC1 Health Risk Pathogenic —
RS2521906062 OCRL Health Risk Pathogenic Dent disease type 2, Dent disease type 2
RS2521906115 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521906131 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521906144 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521906486 OCRL Health Risk Likely pathogenic Dent disease, Dent disease
RS2521911503 SBF1 Health Risk Pathogenic —
RS2521916625 SBF1 Health Risk Pathogenic —
RS2521918290 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521918354 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521918360 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521919750 WNK3 Health Risk Pathogenic Neurodevelopmental disorder, Prieto syndrome
RS2521920142 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521920349 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521920444 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS2521920631 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521921552 WNK3 Health Risk Pathogenic Neurodevelopmental disorder, Prieto syndrome
RS2521922221 OCRL Health Risk Likely pathogenic Lowe syndrome, Lowe syndrome
RS2521924213 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521929524 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2521930122 TCEAL1 Health Risk Likely pathogenic Neurodevelopmental disorder with gait disturbance, dysmorphic facies
RS2521930871 SBF1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS2521931041 TCEAL1 Health Risk Likely pathogenic Neurodevelopmental disorder with gait disturbance, dysmorphic facies
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