RS138320978 RSPH1

Health Risk Chr 21:42493048 snv stop gained
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What This Variant Does
"CLNSIG=5
Associated Conditions
Primary ciliary dyskinesia 24
Kartagener syndrome
Primary ciliary dyskinesia
Primary ciliary dyskinesia 24
Kartagener syndrome
Primary ciliary dyskinesia
ClinVar Assertions (2)
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
· 11 submitters
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
· 11 submitters
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
0%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
100%
Other Variants in RSPH1
rs571130499 rs543602231 rs2054042523 rs2054181752 rs146298259 rs767700639 rs566463967 rs529633380 rs2517333595 rs2517340869
Ask Dr. Hemsworth about this variant