Variant: 2-238475418-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475418-C-T n.*3505C>T downstream_gene RNU6-1140P 3 76610 3.915938E-5 38305 0 0.00125156


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3505C>T NA NA
intron PRLH ENST00000165524 c.100+102C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA NA NA 0.00125156 NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F control African HET 11 0.6363636 67 PASS
Yes M other Hispanic HET 39 0.33333334 99 PASS
Yes M control Hispanic HET 16 0.25 90 PASS