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rs727504382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs727504382(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position4101105
GeneMAP2K2
is asnp
is mentioned by
dbSNPrs727504382
dbSNP (classic)rs727504382
ClinGenrs727504382
ebirs727504382
HLIrs727504382
Exacrs727504382
Gnomadrs727504382
Varsomers727504382
LitVarrs727504382
Maprs727504382
PheGenIrs727504382
Biobankrs727504382
1000 genomesrs727504382
hgdprs727504382
ensemblrs727504382
geneviewrs727504382
scholarrs727504382
googlers727504382
pharmgkbrs727504382
gwascentralrs727504382
openSNPrs727504382
23andMers727504382
SNPshotrs727504382
SNPdbers727504382
MSV3drs727504382
GWAS Ctlgrs727504382
Max Magnitude0

aka c.619G>A (p.Glu207Lys)

ClinVar
Risk rs727504382(A;A)
Alt rs727504382(A;A)
Reference Rs727504382(G;G)
Significance Pathogenic
Disease Rasopathy not provided
Variation info
Gene MAP2K2
CLNDBN Rasopathy not provided
Reversed 1
HGVS NC_000019.9:g.4101103C>T
CLNSRC
CLNACC RCV000158024.2, RCV000254662.2,