Variant: 2-238475417-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
2-238475417-G-A downstream_gene_variant RNU6-1140P 19 75996 2.5001317E-4 37998 1


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene_variant RNU6-1140P ENST00000410517 n.*3504G>A NA NA
intron_variant PRLH ENST00000165524 c.100+101G>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:
6 Male
11 Female
1 Ambiguous
0 NA
Ethnicity count:
1 African
13 Caucasian
0 EastAsian
2 Hispanic
2 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes F healthy family member Caucasian HET 63 99 PASS
Yes F epilepsy Caucasian HET 36 99 LIKELY
Yes M obsessive compulsive disorder Caucasian HET 22 99 PASS
Yes M kidney and urological disease Caucasian HET 15 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 32 99 PASS
Yes Ambiguous dementia MiddleEastern HET 11 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 13 62 LIKELY
Yes F kidney and urological disease Caucasian HET 35 99 PASS
Yes M healthy family member Hispanic HOM 5 15 PASS
Yes F healthy family member Caucasian HET 11 99 PASS
Yes F control African HET 27 99 PASS
Yes F fetal ultrasound anomaly Caucasian HET 62 99 PASS
Yes F healthy family member Caucasian HET 22 99 PASS
Yes F epilepsy MiddleEastern HET 20 99 PASS
Yes F epilepsy Caucasian HET 62 99 PASS
Yes M kidney and urological disease Caucasian HET 46 99 PASS
Yes F dementia Hispanic HET 12 99 PASS
Yes M kidney and urological disease Caucasian HET 75 99 PASS