PDF

AIPL1
NM_014336:c.277-10A>C

Information

Variant Locale INTRON2
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr17:6331836:T>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Unknown Unknown

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

4978/8600
European American Alternate Allele Count

1700/4406
African American Alternate Allele Count
1000 Genomes
European

74/132
Utah residents, Northern and Western European ancestry

86/122
Toscani in Italia

84/136
British from England and Scotland

96/162
Finnish from Finland

77/116
Iberian populations in Spain
 
East Asian

74/146
Han Chinese in Beijing, China

71/148
Japanese in Toyko, Japan

94/180
Han Chinese South

68/146
Chinese Dai in Xishuangbanna

77/116
Iberian populations in Spain

75/148
Kinh in Ho Chi Minh City, Vietnam
West African

57/162
Yoruba in Ibadan, Nigeria

15/48
Luhya in Webuye, Kenya
 
Americas

46/98
African Ancestry in Southwest US

43/110
African Caribbean in Barbados

76/116
Mexican Ancestry in Los Angeles, CA

74/140
Puerto Rican in Puerto Rico

50/96
Colombian in Medellin, Colombia

66/94
Peruvian in Lima, Peru
South Asian

72/152
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes.

http://vvd.eng.uiowa.edu/variant/1428
© 2011–2017 The Institute for Vision Research at The University of Iowa