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KCNQ1 c.1794+27336A>G
Variant ID: 11-2826603-A-G
NM_000218.2(
KCNQ1
):c.1794+27336A>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:
Identification of novel functional CpG-SNPs associated with Type 2 diabetes and birth weight.
Aging
Liu, Rui-Ke RK; Lin, Xu X; Wang, Zun Z; Greenbaum, Jonathan J; Qiu, Chuan C; Zeng, Chun-Ping CP; Zhu, Yong-Yao YY; Shen, Jie J; Deng, Hong-Wen HW
Publication Date: 2021-04-04
Variant appearance in text: rs3852527
PubMed Link:
33835050
Variant Present in the following documents:
Main text
aging-13-202828.pdf
View BVdb publication page
Identification of novel genetic variants for type 2 diabetes, childhood obesity, and their pleiotropic loci.
Journal Of Human Genetics
Zeng, Chun-Ping CP; Lin, Xu X; Peng, Cheng C; Zhou, Lin L; You, Hui-Min HM; Shen, Jie J; Deng, Hong-Wen HW
Publication Date: 2019-05
Variant appearance in text: rs3852527
PubMed Link:
30816286
Variant Present in the following documents:
Main text
View BVdb publication page
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.
Biomed Research International
Perez, Yonatan Y; Wormser, Ohad O; Sadaka, Yair Y; Birk, Ruth R; Narkis, Ginat G; Birk, Ohad S OS
Publication Date: 2017
Variant appearance in text: rs3852527
PubMed Link:
29119105
Variant Present in the following documents:
Main text
BMRI2017-3470234.pdf
View BVdb publication page
Increased identification of novel variants in type 2 diabetes, birth weight and their pleiotropic loci.
Journal Of Diabetes
Zeng, Chun-Ping CP; Chen, Yuan-Cheng YC; Lin, Xu X; Greenbaum, Jonathan J; Chen, You-Ping YP; Peng, Cheng C; Wang, Xia-Fang XF; Zhou, Rou R; Deng, Wei-Min WM; Shen, Jie J; Deng, Hong-Wen HW
Publication Date: 2017-10
Variant appearance in text: rs3852527
PubMed Link:
27896934
Variant Present in the following documents:
Main text
View BVdb publication page