RS139175351 PCDH15

Health Risk Chr 10:54020214 snv missense variant
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Associated Conditions
Usher syndrome type 1F
Usher syndrome type 1D
PCDH15-related disorder
Optic atrophy
Usher syndrome type 1F
Usher syndrome type 1D
PCDH15-related disorder
Optic atrophy
Population Frequencies
gnomAD ALL
100%
1kG AFR
0.3%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in PCDH15
rs1307471318 rs137853001 rs199469706 rs111033260 rs137853002 rs137853003 rs137853004 rs267606932 rs201855435 rs483353074
Ask Dr. Hemsworth about this variant