Variant: 2-238475332-C-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475332-C-G n.*3419C>G downstream_gene RNU6-1140P 10 80378 1.2441215E-4 40189 0 3.82263E-4


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3419C>G NA NA
intron PRLH ENST00000165524 c.100+16C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.92308E-4 NA 8.55072E-5 3.82263E-4 NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F infectious disease African HET 27 0.44444445 99 PASS
Yes F control African HET 43 0.5116279 99 PASS
Yes M healthy family member African HET 52 0.46153846 99 PASS
Yes F fetal ultrasound anomaly Hispanic HET 94 0.4574468 99 PASS
Yes F kidney and urological disease African HET 17 0.47058824 99 PASS
Yes F control African HET 67 0.5522388 99 PASS
Yes M kidney and urological disease Hispanic HET 65 0.50769234 99 PASS
Yes F control African HET 9 0.33333334 90 PASS
Yes M epilepsy African HET 96 0.4375 99 PASS
Yes M pulmonary disease African HET 47 0.34042552 99 PASS