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

rs36215895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs36215895(C;T)
Make rs36215895(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position64210033
GeneSYNE2
is asnp
is mentioned by
dbSNPrs36215895
dbSNP (classic)rs36215895
ClinGenrs36215895
ebirs36215895
HLIrs36215895
Exacrs36215895
Gnomadrs36215895
Varsomers36215895
LitVarrs36215895
Maprs36215895
PheGenIrs36215895
Biobankrs36215895
1000 genomesrs36215895
hgdprs36215895
ensemblrs36215895
geneviewrs36215895
scholarrs36215895
googlers36215895
pharmgkbrs36215895
gwascentralrs36215895
openSNPrs36215895
23andMers36215895
SNPshotrs36215895
SNPdbers36215895
MSV3drs36215895
GWAS Ctlgrs36215895
GMAF0.005051
Max Magnitude0
OMIM608442
Desc
Variant0001
Relatedalso


ClinVar
Risk rs36215895(G;G) rs36215895(T;T)
Alt rs36215895(G;G) rs36215895(T;T)
Reference Rs36215895(C;C)
Significance Other
Disease Emery-Dreifuss muscular dystrophy 5 not specified Emery-Dreifuss muscular dystrophy
Variation info
Gene SYNE2
CLNDBN Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified Emery-Dreifuss muscular dystrophy
Reversed 0
HGVS NC_000014.8:g.64676751C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002414.4, RCV000173937.3, RCV000403391.1,