RS137982921 RPGRIP1L

Health Risk Chr 16:53664956 snv missense variant
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Associated Conditions
Nephronophthisis 8
Meckel syndrome
type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1
Inborn genetic diseases
Optic atrophy
RPGRIP1L-related disorder
Nephronophthisis 8
Meckel syndrome
type 5
Joubert syndrome 7
Joubert syndrome
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
100%
1kG ALL
100%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
100%
Other Variants in RPGRIP1L
rs121918197 rs121918198 rs121918199 rs121918200 rs121918201 rs121918202 rs121918203 rs121918204 rs387906243 rs145665129
Ask Dr. Hemsworth about this variant