Variant: 14-20215709-A-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-20215709-A-T p.Gly41Gly synonymous OR4Q3 5 9664 5.173841E-4 4832 0 0.00125


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous OR4Q3 ENST00000331723 c.123A>T p.Gly41Gly NA
intron OR4N2 ENST00000557414 c.-304+14087A>T NA NA
intron OR11K2P ENST00000593630 n.26+4547T>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
4.12092E-5 NA 4.77631E-5 3.18552E-5 NA 0.00125 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 272 0.3125 99 INTERMEDIATE
Yes M amyotrophic lateral sclerosis Caucasian HET 113 0.26548672 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 204 0.27941176 99 FAIL
Yes M amyotrophic lateral sclerosis Caucasian HET 61 0.29508197 99 LIKELY
Yes M amyotrophic lateral sclerosis Caucasian HET 41 0.36585367 99 LIKELY