Variant: 2-238475232-G-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475232-G-T p.Ala6Ser missense PRLH 75 80786 9.2837866E-4 40393 0 6.25E-4


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.16G>T p.Ala6Ser NA
downstream_gene RNU6-1140P ENST00000410517 n.*3319G>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
6.21118E-4 NA 2.66742E-4 NA NA 6.25E-4 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 35 0.54285717 99 PASS
Yes F control African HET 52 0.46153846 99 PASS
Yes M kidney and urological disease Caucasian HET 38 0.55263156 99 PASS
Yes M kidney and urological disease Caucasian HET 40 0.675 99 PASS
Yes M healthy family member Caucasian HET 26 0.5769231 99 PASS
Yes F congenital disorder Hispanic HET 38 0.31578946 99 PASS
Yes F epilepsy Caucasian HET 72 0.5694444 99 LIKELY
Yes F healthy family member Hispanic HET 34 0.23529412 99 PASS
Yes F control African HET 78 0.35897437 99 PASS
Yes M control Hispanic HET 19 0.47368422 99 PASS
Yes F kidney and urological disease Caucasian HET 37 0.4864865 99 PASS
Yes M congenital disorder Hispanic HET 17 0.5294118 65 INTERMEDIATE
Yes M healthy family member Caucasian HET 15 0.46666667 99 PASS
Yes F kidney and urological disease Hispanic HET 32 0.40625 99 PASS
Yes M healthy family member African HET 97 0.49484536 99 PASS
Yes M kidney and urological disease Caucasian HET 23 0.6956522 99 PASS
Yes F healthy family member Caucasian HET 15 0.33333334 99 PASS
Yes F dementia Hispanic HET 13 0.53846157 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 79 0.49367088 99 PASS
Yes F epilepsy Caucasian HET 24 0.5 99 PASS
Yes M epilepsy Caucasian HET 76 0.47368422 99 PASS
Yes M kidney and urological disease Caucasian HET 23 0.7826087 99 PASS
Yes F kidney and urological disease Caucasian HET 28 0.42857143 99 PASS
Yes M epilepsy Caucasian HET 96 0.6770833 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 57 0.42105263 99 PASS
Yes M epilepsy Caucasian HET 50 0.54 99 LIKELY
Yes M kidney and urological disease Caucasian HET 41 0.31707317 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 21 0.3809524 99 PASS
Yes F epilepsy Hispanic HET 13 0.53846157 99 PASS
Yes M pulmonary disease Caucasian HET 15 0.6666667 99 PASS
Yes M kidney and urological disease African HET 11 0.36363637 87 PASS
Yes M healthy family member Hispanic HET 11 0.36363637 99 PASS
Yes F kidney and urological disease Caucasian HET 54 0.33333334 99 PASS
Yes M epilepsy MiddleEastern HET 54 0.46296296 99 PASS
Yes M infectious disease Caucasian HET 29 0.31034482 99 PASS
Yes F kidney and urological disease Hispanic HET 39 0.51282054 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 15 0.6 99 LIKELY
Yes F healthy family member Caucasian HET 42 0.47619048 99 PASS
Yes F epilepsy African HET 22 0.54545456 99 PASS
Yes M amyotrophic lateral sclerosis African HET 39 0.35897437 99 PASS
Yes M kidney and urological disease Caucasian HET 32 0.375 99 PASS
Yes F kidney and urological disease Hispanic HET 29 0.51724136 99 PASS
Yes M epilepsy Caucasian HET 35 0.51428574 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 44 0.59090906 99 PASS
Yes F control African HET 31 0.41935483 99 PASS
Yes M epilepsy Caucasian HET 111 0.4054054 99 PASS
Yes M kidney and urological disease Caucasian HET 61 0.4918033 99 PASS
Yes F healthy family member Caucasian HET 53 0.5283019 99 PASS
Yes F control African HET 34 0.44117647 99 PASS
Yes F dementia African HET 29 0.55172414 99 PASS
Yes F epilepsy Hispanic HET 94 0.59574467 99 PASS
Yes F control African HET 27 0.4074074 99 PASS
Yes F control African HET 33 0.36363637 99 PASS
Yes F control African HET 43 0.39534885 99 PASS
Yes F schizophrenia Caucasian HET 9 0.44444445 99 PASS
Yes F healthy family member MiddleEastern HET 34 0.44117647 99 PASS
Yes M healthy family member African HET 57 0.4385965 99 PASS
Yes F control African HET 47 0.42553192 99 PASS
Yes M healthy family member Caucasian HET 42 0.3809524 99 PASS
Yes M control Hispanic HET 51 0.5882353 99 PASS
Yes M healthy family member Caucasian HET 24 0.375 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 21 0.52380955 99 PASS
Yes F healthy family member Caucasian HET 23 0.4347826 99 PASS
Yes F healthy family member MiddleEastern HET 24 0.29166666 99 LIKELY
Yes M ophthalmic disease MiddleEastern HET 48 0.3125 99 PASS
Yes F kidney and urological disease Caucasian HET 37 0.43243244 99 PASS
Yes M epilepsy MiddleEastern HET 123 0.43089432 99 PASS
Yes F kidney and urological disease Caucasian HET 64 0.453125 99 PASS
Yes M epilepsy Caucasian HET 88 0.5 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 49 0.5102041 99 PASS
Yes M epilepsy Hispanic HET 23 0.6956522 99 PASS
Yes M kidney and urological disease Caucasian HET 44 0.5681818 99 PASS
Yes M obsessive compulsive disorder Caucasian HET 23 0.5217391 99 PASS
Yes M healthy family member Caucasian HET 37 0.4054054 99 PASS
Yes M healthy family member Hispanic HET 26 0.23076923 99 PASS