Variant: 2-238475392-C-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475392-C-A n.*3479C>A downstream_gene RNU6-1140P 2 77784 2.5712228E-5 38892 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3479C>A NA NA
intron PRLH ENST00000165524 c.100+76C>A NA NA


External AF

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


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F kidney and urological disease EastAsian HET 12 0.6666667 99 PASS
Yes F kidney and urological disease EastAsian HET 36 0.5555556 99 PASS