Variant: 2-238475393-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475393-G-A n.*3480G>A downstream_gene RNU6-1140P 11 78384 1.4033476E-4 39192 0 6.36943E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene RNU6-1140P ENST00000410517 n.*3480G>A NA NA
intron PRLH ENST00000165524 c.100+77G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA 6.36943E-5 NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 21 0.52380955 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 50 0.42 99 PASS
Yes M epilepsy Caucasian HET 27 0.4074074 99 PASS
Yes F epilepsy Caucasian HET 49 0.42857143 99 PASS
Yes F healthy family member MiddleEastern HET 54 0.537037 99 PASS
Yes M control Caucasian HET 22 0.3181818 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 31 0.48387095 99 PASS
Yes M other neurological disease MiddleEastern HET 44 0.45454547 99 PASS
Yes F congenital disorder Caucasian HET 43 0.5813953 99 PASS
Yes M control MiddleEastern HET 35 0.4857143 99 PASS
Yes M kidney and urological disease Caucasian HET 10 0.7 79 PASS