Variant: 2-238475417-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475417-G-A n.*3504G>A downstream_gene RNU6-1140P 19 76638 2.479188E-4 38319 1 2.54858E-4


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3504G>A NA NA
intron PRLH ENST00000165524 c.100+101G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA 2.54858E-4 NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F healthy family member Caucasian HET 63 0.4920635 99 PASS
Yes F epilepsy Caucasian HET 36 0.3888889 99 LIKELY
Yes M obsessive compulsive disorder Caucasian HET 22 0.45454547 99 PASS
Yes M kidney and urological disease Caucasian HET 15 0.6 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 32 0.53125 99 PASS
Yes Ambiguous dementia MiddleEastern HET 11 0.54545456 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 13 0.23076923 62 LIKELY
Yes F kidney and urological disease Caucasian HET 35 0.4857143 99 PASS
Yes M healthy family member Hispanic HOM 5 1.0 15 PASS
Yes F healthy family member Caucasian HET 11 0.45454547 99 PASS
Yes F control African HET 27 0.5925926 99 PASS
Yes F fetal ultrasound anomaly Caucasian HET 62 0.5967742 99 PASS
Yes F healthy family member Caucasian HET 22 0.5 99 PASS
Yes F epilepsy MiddleEastern HET 20 0.5 99 PASS
Yes F epilepsy Caucasian HET 62 0.48387095 99 PASS
Yes M kidney and urological disease Caucasian HET 46 0.6086956 99 PASS
Yes F dementia Hispanic HET 12 0.5 99 PASS
Yes M kidney and urological disease Caucasian HET 75 0.52 99 PASS