Variant: 2-238475409-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
2-238475409-C-T downstream_gene_variant RNU6-1140P 55 75934 7.243132E-4 37967 2


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
downstream_gene_variant RNU6-1140P ENST00000410517 n.*3496C>T NA NA
intron_variant PRLH ENST00000165524 c.100+93C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA NA NA 0.00438048 NA


Carrier

Gender count:
35 Male
18 Female
0 Ambiguous
0 NA
Ethnicity count:
1 African
6 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
46 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M kidney and urological disease SouthAsian HET 28 99 PASS
Yes F control SouthAsian HET 13 99 PASS
Yes M kidney and urological disease SouthAsian HET 11 99 PASS
Yes M kidney and urological disease SouthAsian HET 51 99 PASS
Yes F healthy family member SouthAsian HET 52 99 PASS
Yes M kidney and urological disease SouthAsian HET 30 99 PASS
Yes M healthy family member SouthAsian HET 19 99 PASS
Yes M kidney and urological disease SouthAsian HET 17 99 PASS
Yes M healthy family member SouthAsian HET 35 99 PASS
Yes M congenital disorder SouthAsian HET 97 99 PASS
Yes F kidney and urological disease SouthAsian HET 36 99 PASS
Yes M kidney and urological disease SouthAsian HET 31 99 PASS
Yes F epilepsy SouthAsian HET 36 99 LIKELY
Yes M kidney and urological disease SouthAsian HET 55 99 PASS
Yes F epilepsy Caucasian HET 16 99 PASS
Yes M kidney and urological disease Caucasian HET 42 99 PASS
Yes F healthy family member SouthAsian HET 58 99 PASS
Yes F epilepsy Caucasian HET 25 99 PASS
Yes F healthy family member SouthAsian HET 36 99 PASS
Yes F healthy family member SouthAsian HET 22 99 PASS
Yes M congenital disorder SouthAsian HET 50 99 PASS
Yes F kidney and urological disease SouthAsian HET 25 99 PASS
Yes F epilepsy SouthAsian HET 55 99 PASS
Yes F kidney and urological disease SouthAsian HET 13 99 PASS
Yes M kidney and urological disease SouthAsian HET 16 99 PASS
Yes M congenital disorder SouthAsian HET 40 99 PASS
Yes M other neurological disease SouthAsian HET 17 99 PASS
Yes F kidney and urological disease SouthAsian HET 31 99 PASS
Yes M kidney and urological disease SouthAsian HET 14 99 PASS
Yes M kidney and urological disease SouthAsian HET 23 99 LIKELY
Yes M kidney and urological disease SouthAsian HET 42 99 PASS
Yes M healthy family member SouthAsian HET 32 99 PASS
Yes M other neurological disease SouthAsian HET 25 99 PASS
Yes M amyotrophic lateral sclerosis SouthAsian HET 32 99 PASS
Yes M healthy family member SouthAsian HET 52 99 PASS
Yes F epilepsy Caucasian HET 16 99 PASS
Yes M kidney and urological disease SouthAsian HOM 4 2 PASS
Yes M kidney and urological disease SouthAsian HET 7 83 PASS
Yes F healthy family member SouthAsian HET 29 99 PASS
Yes M healthy family member SouthAsian HET 52 99 PASS
Yes F healthy family member SouthAsian HET 51 99 PASS
Yes M healthy family member SouthAsian HET 19 99 PASS
Yes M kidney and urological disease SouthAsian HET 3 24 PASS
Yes M kidney and urological disease SouthAsian HET 25 99 LIKELY
Yes F kidney and urological disease SouthAsian HET 61 99 PASS
Yes M fetal ultrasound anomaly SouthAsian HET 47 99 PASS
Yes M amyotrophic lateral sclerosis African HET 18 99 LIKELY
Yes F obsessive compulsive disorder Caucasian HET 18 99 PASS
Yes M kidney and urological disease SouthAsian HET 23 99 PASS
Yes M kidney and urological disease SouthAsian HET 15 99 PASS
Yes M kidney and urological disease SouthAsian HOM 15 45 PASS
Yes M healthy family member Caucasian HET 27 99 PASS
Yes M kidney and urological disease SouthAsian HET 28 99 PASS