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rs121434592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434592(A;A)
Make rs121434592(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position104780214
GeneAKT1
is asnp
is mentioned by
dbSNPrs121434592
dbSNP (classic)rs121434592
ClinGenrs121434592
ebirs121434592
HLIrs121434592
Exacrs121434592
Gnomadrs121434592
Varsomers121434592
LitVarrs121434592
Maprs121434592
PheGenIrs121434592
Biobankrs121434592
1000 genomesrs121434592
hgdprs121434592
ensemblrs121434592
geneviewrs121434592
scholarrs121434592
googlers121434592
pharmgkbrs121434592
gwascentralrs121434592
openSNPrs121434592
23andMers121434592
SNPshotrs121434592
SNPdbers121434592
MSV3drs121434592
GWAS Ctlgrs121434592
Max Magnitude0
OMIM164730
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434592(A;A)
Alt rs121434592(A;A)
Reference Rs121434592(G;G)
Significance Pathogenic
Disease Breast adenocarcinoma Carcinoma of colon Neoplasm of ovary Proteus syndrome Adenocarcinoma of prostate Neoplasm of the thyroid gland Osteosarcoma Small cell lung cancer Malignant melanoma of skin Adenocarcinoma of stomach Colorectal Neoplasms Neoplasm of breast Endometrial Endometrioid Adenocarcinoma Adenocarcinoma of lung Meningeal Neoplasms Non-small cell lung cancer Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Transitional cell carcinoma of the bladder Hepatocellular carcinoma Prostatic Neoplasms
Variation info
Gene AKT1
CLNDBN Breast adenocarcinoma Carcinoma of colon Neoplasm of ovary Proteus syndrome Adenocarcinoma of prostate Neoplasm of the thyroid gland Osteosarcoma Small cell lung cancer Malignant melanoma of skin Adenocarcinoma of stomach Colorectal Neoplasms Neoplasm of breast Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Adenocarcinoma of lung Meningeal Neoplasms Non-small cell lung cancer Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Transitional cell carcinoma of the bladder Hepatocellular carcinoma Prostatic Neoplasms
Reversed 1
HGVS NC_000014.8:g.105246551C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015017.4, RCV000015018.4, RCV000015019.4, RCV000031926.5, RCV000419412.1, RCV000421009.1, RCV000421696.1, RCV000421850.1, RCV000426386.1, RCV000427484.1, RCV000429060.1, RCV000430173.1, RCV000431237.1, RCV000431723.1, RCV000434120.1, RCV000436698.1, RCV000438154.1, RCV000439982.1, RCV000440828.1, RCV000443761.1, RCV000444311.1, RCV000445271.1,