Variant: 1-69143-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
1-69143-C-T missense_variant OR4F5 2 4726 4.2319085E-4 2363 1


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant OR4F5 ENST00000335137 c.53C>T p.Thr18Ile unknown


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA NA NA NA NA


Carrier

Gender count:
1 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
0 Caucasian
0 EastAsian
0 Hispanic
1 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M kidney and urological disease MiddleEastern HOM 5 15 INTERMEDIATE