| RS10887800 |
RNLS
|
Health Risk |
association |
Family history, Family history |
| RS10936599 |
MYNN
|
Health Risk |
association |
Chronic osteomyelitis, Chronic osteomyelitis |
| RS10954213 |
IRF5
|
Health Risk |
risk factor |
Systemic lupus erythematosus, susceptibility to |
| RS10975674 |
GLDC
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy 1 |
| RS10993994 |
MSMB
|
Health Risk |
risk factor |
Prostate cancer, hereditary |
| RS11000008 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D |
| RS11001247 |
KAT6B
|
Health Risk |
Conflicting classifications of pathogenicity |
Genitopatellar syndrome, Genitopatellar syndrome |
| RS11024341 |
OTOG
|
Health Risk |
Conflicting classifications of pathogenicity |
OTOG-related disorder, OTOG-related disorder |
| RS11039306 |
NDUFS3
|
Health Risk |
Conflicting classifications of pathogenicity |
Leigh syndrome, Mitochondrial complex I deficiency |
| RS11047499 |
A2ML1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS11053646 |
OLR1
|
Health Risk |
Benign; risk factor |
Myocardial infarction, susceptibility to |
| RS11065390 |
HNF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS11074121 |
CHD2
|
Health Risk |
Likely pathogenic |
— |
| RS11075798 |
HYDIN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5 |
| RS11078699 |
MPDU1
|
Health Risk |
Conflicting classifications of pathogenicity |
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS1107946 |
COL1A1
|
Health Risk |
association |
Bone mineral density variation quantitative trait locus, Bone mineral density variation quantitative trait locus |
| RS11087346 |
KIZ
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS111033171 |
ELP1
|
Health Risk |
Pathogenic |
Familial dysautonomia, Charcot-Marie-Tooth disease |
| RS111033174 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033175 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Usher syndrome type 1 |
| RS111033178 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Usher syndrome |
| RS111033180 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11 |
| RS111033181 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033182 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Usher syndrome type 1 |
| RS111033187 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033190 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A |
| RS111033192 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033195 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome, Usher syndrome type 1 |
| RS111033196 |
GJB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS111033198 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033199 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS111033200 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS111033201 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033202 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS111033203 |
GJB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A |
| RS111033204 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness |
| RS111033205 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 4, Rare genetic deafness |
| RS111033206 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033207 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS111033212 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome |
| RS111033214 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Usher syndrome type 1 |
| RS111033215 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1, Rare genetic deafness |
| RS111033217 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness |
| RS111033219 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1 |
| RS111033220 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS111033221 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1 |
| RS111033222 |
GJB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Ichthyosis, hystrix-like |
| RS111033227 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033228 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1 |
| RS111033229 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033230 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11 |
| RS111033232 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Usher syndrome type 1 |
| RS111033233 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033238 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS111033239 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS111033241 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS111033242 |
SLC26A4
|
Health Risk |
Pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS111033244 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Rare genetic deafness |
| RS111033245 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS111033247 |
CDH23
|
Health Risk |
Pathogenic |
Rare genetic deafness, Hearing loss |
| RS111033248 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, Usher syndrome type 2A |
| RS111033250 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS111033252 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033253 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment |
| RS111033254 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Pendred syndrome, Rare genetic deafness |
| RS111033255 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS111033256 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS111033257 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS111033258 |
CLRN1;CLRN1-AS1
|
Health Risk |
Pathogenic |
Usher syndrome type 3, Retinitis pigmentosa |
| RS111033259 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 11 |
| RS111033260 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1F, Usher syndrome type 1G |
| RS111033261 |
TMPRSS3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS111033263 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Retinitis pigmentosa 39 |
| RS111033264 |
USH2A
|
Health Risk |
Pathogenic |
Usher syndrome type 2A, Usher syndrome |
| RS111033265 |
USH2A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Retinal dystrophy |
| RS111033267 |
CLRN1
|
Health Risk |
Pathogenic |
Usher syndrome type 3, Retinitis pigmentosa |
| RS111033268 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Usher syndrome type 2A |
| RS111033270 |
CDH23
|
Health Risk |
Pathogenic |
Usher syndrome type 1D, Pituitary adenoma 5 |
| RS111033271 |
CDH23
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Rare genetic deafness |
| RS111033272 |
USH2A
|
Health Risk |
Pathogenic |
Usher syndrome type 2A, Abnormal macular morphology |
| RS111033273 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Retinitis pigmentosa 39 |
| RS111033275 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, Retinal dystrophy |
| RS111033276 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Retinal dystrophy |
| RS111033280 |
USH2A
|
Health Risk |
Pathogenic |
Usher syndrome, Usher syndrome type 2A |
| RS111033283 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Usher syndrome type 1 |
| RS111033284 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Inborn genetic diseases |
| RS111033285 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033286 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS111033287 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11 |
| RS111033290 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Usher syndrome type 1 |
| RS111033292 |
TMPRSS3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS111033293 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness |
| RS111033294 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment |
| RS111033295 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment |
| RS111033296 |
GJB2
|
Health Risk |
Pathogenic |
Rare genetic deafness, Nonsyndromic genetic hearing loss |
| RS111033297 |
GJB2
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A |
| RS111033299 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment |
| RS111033302 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4 |
| RS111033303 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome |
| RS111033305 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Pendred syndrome |