Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908596(G;T)
Make rs121908596(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position66436837
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs121908596
dbSNP (classic)rs121908596
ClinGenrs121908596
ebirs121908596
HLIrs121908596
Exacrs121908596
Gnomadrs121908596
Varsomers121908596
LitVarrs121908596
Maprs121908596
PheGenIrs121908596
Biobankrs121908596
1000 genomesrs121908596
hgdprs121908596
ensemblrs121908596
geneviewrs121908596
scholarrs121908596
googlers121908596
pharmgkbrs121908596
gwascentralrs121908596
openSNPrs121908596
23andMers121908596
SNPshotrs121908596
SNPdbers121908596
MSV3drs121908596
GWAS Ctlgrs121908596
Max Magnitude0
OMIM176872
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908596(A;A) rs121908596(T;T)
Alt rs121908596(A;A) rs121908596(T;T)
Reference Rs121908596(G;G)
Significance Pathogenic
Disease Malignant melanoma Cardiofaciocutaneous syndrome 3 not provided Cardio-facio-cutaneous syndrome
Variation info
Gene MAP2K1
CLNDBN Malignant melanoma Cardiofaciocutaneous syndrome 3 not provided Cardio-facio-cutaneous syndrome
Reversed 0
HGVS NC_000015.9:g.66729175G>A; NC_000015.9:g.66729175G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000439613.1, RCV000043673.19, RCV000207493.1, RCV000211725.1,