Variant: 2-238475419-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475419-G-A n.*3506G>A downstream_gene RNU6-1140P 7 75908 9.221689E-5 37954 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3506G>A NA NA
intron PRLH ENST00000165524 c.100+103G>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 M obsessive compulsive disorder Caucasian HET 44 0.47727272 99 PASS
Yes F control African HET 24 0.25 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 19 0.47368422 99 PASS
Yes F dementia African HET 14 0.42857143 99 PASS
Yes F healthy family member African HET 34 0.6764706 99 PASS
Yes F other Hispanic HET 36 0.5277778 99 PASS
Yes F healthy family member African HET 99 0.57575756 99 PASS