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UQCC1 c.574-5341A>G
Variant ID: 20-33907909-T-C
NM_018244.4(
UQCC1
):c.574-5341A>G
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Joint disease-specificity at the regulatory base-pair level.
Nature Communications
Muthuirulan, Pushpanathan P; Zhao, Dewei D; Young, Mariel M; Richard, Daniel D; Liu, Zun Z; Emami, Alireza A; Portilla, Gabriela G; Hosseinzadeh, Shayan S; Cao, Jiaxue J; Maridas, David D; Sedlak, Mary M; Menghini, Danilo D; Cheng, Liangliang L; Li, Lu L; Ding, Xinjia X; Ding, Yan Y; Rosen, Vicki V; Kiapour, Ata M AM; Capellini, Terence D TD
Publication Date: 2021-07-06
Variant appearance in text: rs6088791
PubMed Link:
34230488
Variant Present in the following documents:
41467_2021_24345_MOESM1_ESM.pdf
View BVdb publication page
Joint disease-specificity at the regulatory base-pair level.
Nature Communications
Muthuirulan, Pushpanathan P; Zhao, Dewei D; Young, Mariel M; Richard, Daniel D; Liu, Zun Z; Emami, Alireza A; Portilla, Gabriela G; Hosseinzadeh, Shayan S; Cao, Jiaxue J; Maridas, David D; Sedlak, Mary M; Menghini, Danilo D; Cheng, Liangliang L; Li, Lu L; Ding, Xinjia X; Ding, Yan Y; Rosen, Vicki V; Kiapour, Ata M AM; Capellini, Terence D TD
Publication Date: 2021-07-06
Variant appearance in text: rs6088791
PubMed Link:
34230488
Variant Present in the following documents:
41467_2021_24345_MOESM1_ESM.pdf
View BVdb publication page
Novel Genetic Variants Associated with Lumbar Spondylosis in Koreans : A Genome-Wide Association Study.
Journal Of Korean Neurosurgical Society
Kim, Hyun Ah HA; Heo, Seong Gu SG; Park, Ji Wan JW; Jung, Young Ok YO
Publication Date: 2018-01
Variant appearance in text: rs6088791
PubMed Link:
29354237
Variant Present in the following documents:
Main text
jkns-61-1-66.pdf
View BVdb publication page
A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH.
Plos One
Sun, Ye Y; Wang, Cheng C; Hao, Zheng Z; Dai, Jin J; Chen, Dongyang D; Xu, Zhihong Z; Shi, Dongquan D; Mao, Ping P; Teng, Huajian H; Gao, Xiang X; Hu, Zhibin Z; Shen, Hongbing H; Jiang, Qing Q
Publication Date: 2015
Variant appearance in text: rs6088791
PubMed Link:
25848760
Variant Present in the following documents:
Main text
pone.0120212.pdf
View BVdb publication page
Genome-wide association study identified UQCC locus for spine bone size in humans.
Bone
Deng, Fei-Yan FY; Dong, Shan-Shan SS; Xu, Xiang-Hong XH; Liu, Yong-Jun YJ; Liu, Yao-Zhong YZ; Shen, Hui H; Tian, Qing Q; Li, Jian J; Deng, Hong-Wen HW
Publication Date: 2013-03
Variant appearance in text: rs6088791
PubMed Link:
23207799
Variant Present in the following documents:
Main text
View BVdb publication page