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rs397516792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516792(C;T)
Make rs397516792(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position66436825
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs397516792
dbSNP (classic)rs397516792
ClinGenrs397516792
ebirs397516792
HLIrs397516792
Exacrs397516792
Gnomadrs397516792
Varsomers397516792
LitVarrs397516792
Maprs397516792
PheGenIrs397516792
Biobankrs397516792
1000 genomesrs397516792
hgdprs397516792
ensemblrs397516792
geneviewrs397516792
scholarrs397516792
googlers397516792
pharmgkbrs397516792
gwascentralrs397516792
openSNPrs397516792
23andMers397516792
SNPshotrs397516792
SNPdbers397516792
MSV3drs397516792
GWAS Ctlgrs397516792
Max Magnitude0
ClinVar
Risk rs397516792(A;A) rs397516792(G;G) rs397516792(T;T)
Alt rs397516792(A;A) rs397516792(G;G) rs397516792(T;T)
Reference Rs397516792(C;C)
Significance Pathogenic
Disease Malignant neoplasm of body of uterus Malignant melanoma of skin Transitional cell carcinoma of the bladder Colorectal Neoplasms not provided Cardio-facio-cutaneous syndrome Malignant melanoma
Variation info
Gene MAP2K1
CLNDBN Malignant neoplasm of body of uterus Malignant melanoma of skin Transitional cell carcinoma of the bladder Colorectal Neoplasms not provided Cardio-facio-cutaneous syndrome Malignant melanoma
Reversed 0
HGVS NC_000015.9:g.66729163C>A; NC_000015.9:g.66729163C>G; NC_000015.9:g.66729163C>T
CLNSRC ClinVar
CLNACC RCV000418888.1, RCV000419962.1, RCV000425396.1, RCV000436127.1, RCV000413383.1, RCV000037595.2, RCV000417448.1, RCV000424633.1, RCV000425638.1, RCV000435315.1, RCV000436322.1,