Variant: 2-238475409-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475409-C-T n.*3496C>T downstream_gene RNU6-1140P 58 77566 7.477503E-4 38783 2 0.00438048


Annotation

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


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA 1.59307E-4 NA 0.00438048 NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M kidney and urological disease SouthAsian HET 28 0.5714286 99 PASS
Yes F control SouthAsian HET 13 0.46153846 99 PASS
Yes M kidney and urological disease SouthAsian HET 11 0.54545456 99 PASS
Yes M kidney and urological disease SouthAsian HET 51 0.5686275 99 PASS
Yes F healthy family member SouthAsian HET 52 0.5192308 99 PASS
Yes M healthy family member SouthAsian HET 30 0.46666667 99 PASS
Yes M kidney and urological disease SouthAsian HET 30 0.33333334 99 PASS
Yes M kidney and urological disease SouthAsian HET 37 0.4054054 99 PASS
Yes M healthy family member SouthAsian HET 19 0.36842105 99 PASS
Yes M kidney and urological disease SouthAsian HET 17 0.4117647 99 PASS
Yes M healthy family member SouthAsian HET 35 0.37142858 99 PASS
Yes M congenital disorder SouthAsian HET 97 0.4742268 99 PASS
Yes F kidney and urological disease SouthAsian HET 36 0.4722222 99 PASS
Yes M kidney and urological disease SouthAsian HET 31 0.41935483 99 PASS
Yes F epilepsy SouthAsian HET 36 0.5277778 99 LIKELY
Yes M kidney and urological disease SouthAsian HET 55 0.6181818 99 PASS
Yes F epilepsy Caucasian HET 16 0.4375 99 PASS
Yes M kidney and urological disease Caucasian HET 42 0.64285713 99 PASS
Yes F healthy family member SouthAsian HET 58 0.37931034 99 PASS
Yes F epilepsy Caucasian HET 25 0.48 99 PASS
Yes F healthy family member SouthAsian HET 36 0.2777778 99 PASS
Yes F healthy family member SouthAsian HET 22 0.5 99 PASS
Yes M congenital disorder SouthAsian HET 50 0.62 99 PASS
Yes F kidney and urological disease SouthAsian HET 25 0.64 99 PASS
Yes M other SouthAsian HET 60 0.45 99 PASS
Yes F epilepsy SouthAsian HET 55 0.45454547 99 PASS
Yes F kidney and urological disease SouthAsian HET 13 0.3846154 99 PASS
Yes M kidney and urological disease SouthAsian HET 16 0.4375 99 PASS
Yes M congenital disorder SouthAsian HET 40 0.65 99 PASS
Yes M other neurological disease SouthAsian HET 17 0.4117647 99 PASS
Yes F kidney and urological disease SouthAsian HET 31 0.41935483 99 PASS
Yes M kidney and urological disease SouthAsian HET 14 0.42857143 99 PASS
Yes M kidney and urological disease SouthAsian HET 23 0.3478261 99 LIKELY
Yes M kidney and urological disease SouthAsian HET 42 0.5 99 PASS
Yes M healthy family member SouthAsian HET 32 0.34375 99 PASS
Yes M other neurological disease SouthAsian HET 25 0.52 99 PASS
Yes M amyotrophic lateral sclerosis SouthAsian HET 32 0.40625 99 PASS
Yes M healthy family member SouthAsian HET 52 0.44230768 99 PASS
Yes F epilepsy Caucasian HET 16 0.625 99 PASS
Yes M kidney and urological disease SouthAsian HOM 4 0.75 2 PASS
Yes M kidney and urological disease SouthAsian HET 7 0.5714286 83 PASS
Yes F healthy family member SouthAsian HET 29 0.55172414 99 PASS
Yes M healthy family member SouthAsian HET 52 0.48076922 99 PASS
Yes F healthy family member SouthAsian HET 51 0.47058824 99 PASS
Yes M healthy family member SouthAsian HET 19 0.6315789 99 PASS
Yes M kidney and urological disease SouthAsian HET 3 0.6666667 24 PASS
Yes M kidney and urological disease SouthAsian HET 25 0.28 99 LIKELY
Yes F kidney and urological disease SouthAsian HET 61 0.52459013 99 PASS
Yes M fetal ultrasound anomaly SouthAsian HET 47 0.3617021 99 PASS
Yes M amyotrophic lateral sclerosis African HET 18 0.5 99 LIKELY
Yes F obsessive compulsive disorder Caucasian HET 18 0.5 99 PASS
Yes M kidney and urological disease SouthAsian HET 23 0.6086956 99 PASS
Yes M kidney and urological disease SouthAsian HET 15 0.53333336 99 PASS
Yes M kidney and urological disease SouthAsian HOM 15 1.0 45 PASS
Yes M healthy family member Caucasian HET 27 0.4814815 99 PASS
Yes M kidney and urological disease SouthAsian HET 28 0.53571427 99 PASS