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rs201583907

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201583907(A;A)
Make rs201583907(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position156137191
GeneLMNA
is asnp
is mentioned by
dbSNPrs201583907
dbSNP (classic)rs201583907
ClinGenrs201583907
ebirs201583907
HLIrs201583907
Exacrs201583907
Gnomadrs201583907
Varsomers201583907
LitVarrs201583907
Maprs201583907
PheGenIrs201583907
Biobankrs201583907
1000 genomesrs201583907
hgdprs201583907
ensemblrs201583907
geneviewrs201583907
scholarrs201583907
googlers201583907
pharmgkbrs201583907
gwascentralrs201583907
openSNPrs201583907
23andMers201583907
SNPshotrs201583907
SNPdbers201583907
MSV3drs201583907
GWAS Ctlgrs201583907
Max Magnitude0
ClinVar
Risk rs201583907(A;A) rs201583907(C;C)
Alt rs201583907(A;A) rs201583907(C;C)
Reference Rs201583907(G;G)
Significance Pathogenic
Disease not specified not provided Cardiovascular phenotype Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN not specified not provided Cardiovascular phenotype Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.156106982G>A; NC_000001.10:g.156106982G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000041324.3, RCV000057323.4, RCV000245950.1, RCV000474372.1, RCV000182372.1,