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rs727504317

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504317(A;A)
Make rs727504317(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position66435145
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs727504317
ebirs727504317
HLIrs727504317
Exacrs727504317
Varsomers727504317
Maprs727504317
PheGenIrs727504317
hapmaprs727504317
1000 genomesrs727504317
hgdprs727504317
ensemblrs727504317
gopubmedrs727504317
geneviewrs727504317
scholarrs727504317
googlers727504317
pharmgkbrs727504317
gwascentralrs727504317
openSNPrs727504317
23andMers727504317
23andMe allrs727504317
SNP Nexus

SNPshotrs727504317
SNPdbers727504317
MSV3drs727504317
GWAS Ctlgrs727504317
Max Magnitude0
ClinVar
Risk rs727504317(A;A)
Alt rs727504317(A;A)
Reference rs727504317(G;G)
Significance Pathogenic
Disease Rasopathy Cardiofaciocutaneous syndrome 3 Cardiofaciocutaneous syndrome not provided
Variation info
Gene MAP2K1
CLNDBN Rasopathy Cardiofaciocutaneous syndrome 3 Cardiofaciocutaneous syndrome not provided
Reversed 0
HGVS NC_000015.9:g.66727483G>A
CLNSRC
CLNACC RCV000158004.2, RCV000192193.1, RCV000208771.1, RCV000212506.1,