Variant: 2-238475392-C-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
2-238475392-C-A downstream_gene_variant RNU6-1140P 2 76746 2.605999E-5 38373 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene_variant RNU6-1140P ENST00000410517 n.*3479C>A NA NA
intron_variant 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:
0 Male
2 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
0 Caucasian
2 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes F kidney and urological disease EastAsian HET 12 99 PASS
Yes F kidney and urological disease EastAsian HET 36 99 PASS