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rs149339264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149339264(C;T)
Make rs149339264(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position156137190
GeneLMNA
is asnp
is mentioned by
dbSNPrs149339264
dbSNP (classic)rs149339264
ClinGenrs149339264
ebirs149339264
HLIrs149339264
Exacrs149339264
Gnomadrs149339264
Varsomers149339264
LitVarrs149339264
Maprs149339264
PheGenIrs149339264
Biobankrs149339264
1000 genomesrs149339264
hgdprs149339264
ensemblrs149339264
geneviewrs149339264
scholarrs149339264
googlers149339264
pharmgkbrs149339264
gwascentralrs149339264
openSNPrs149339264
23andMers149339264
23andMe allrs149339264
SNPshotrs149339264
SNPdbers149339264
MSV3drs149339264
GWAS Ctlgrs149339264
Max Magnitude0
ClinVar
Risk rs149339264(A;A) rs149339264(T;T)
Alt rs149339264(A;A) rs149339264(T;T)
Reference Rs149339264(C;C)
Significance Other
Disease Cardiovascular phenotype not specified Charcot-Marie-Tooth disease Dilated Cardiomyopathy Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy Limb-Girdle Muscular Dystrophy Mandibuloacral dysplasia Lipoatrophy with Diabetes Congenital muscular dystrophy Charcot-Marie-Tooth Lethal tight skin contracture syndrome
Variation info
Gene LMNA
CLNDBN Cardiovascular phenotype not specified Charcot-Marie-Tooth disease, type 2 Dilated Cardiomyopathy, Dominant Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy Limb-Girdle Muscular Dystrophy, Recessive Mandibuloacral dysplasia Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy, LMNA-related Charcot-Marie-Tooth, Type 2 Lethal tight skin contracture syndrome
Reversed 0
HGVS NC_000001.10:g.156106981C>A; NC_000001.10:g.156106981C>T
CLNSRC Illumina
CLNACC RCV000250959.1, RCV000041322.4, RCV000233927.1, RCV000242680.1, RCV000262946.1, RCV000285909.1, RCV000289458.1, RCV000320484.1, RCV000337260.1, RCV000340752.1, RCV000377490.1, RCV000380292.1, RCV000391138.1, RCV000399953.1,