Variant: 2-238475416-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475416-C-T n.*3503C>T downstream_gene RNU6-1140P 5 76198 6.561852E-5 38099 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3503C>T NA NA
intron PRLH ENST00000165524 c.100+100C>T 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 M kidney and urological disease African HET 31 0.48387095 99 PASS
Yes M kidney and urological disease African HET 31 0.41935483 99 PASS
Yes M kidney and urological disease African HET 45 0.44444445 99 PASS
Yes M epilepsy African HET 36 0.44444445 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 42 0.4047619 99 PASS