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rs727503837

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTTCTGGAGTGCTCT;GTTCTGGAGTGCTCT) 0 common in clinvar
(TTCTGGAGTGCTCTG;TTCTGGAGTGCTCTG) 0 common in clinvar
Make rs727503837(-;-)
Make rs727503837(-;TTCTGGAGTGCTCTG)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position42387852
GeneCAPN3, LOC105370794
is asnp
is mentioned by
dbSNPrs727503837
dbSNP (old)rs727503837
ClinGenrs727503837
ebirs727503837
HLIrs727503837
Exacrs727503837
Gnomadrs727503837
Varsomers727503837
Maprs727503837
PheGenIrs727503837
Biobankrs727503837
1000 genomesrs727503837
hgdprs727503837
ensemblrs727503837
gopubmedrs727503837
geneviewrs727503837
scholarrs727503837
googlers727503837
pharmgkbrs727503837
gwascentralrs727503837
openSNPrs727503837
23andMers727503837
23andMe allrs727503837
SNP Nexus

SNPshotrs727503837
SNPdbers727503837
MSV3drs727503837
GWAS Ctlgrs727503837
Max Magnitude0
ClinVar
Risk rs727503837(-;-) Rs727503837(GTTCTGGAGTGCTCT;GTTCTGGAGTGCTCT)
Alt rs727503837(-;-) Rs727503837(GTTCTGGAGTGCTCT;GTTCTGGAGTGCTCT)
Reference Rs727503837(TTCTGGAGTGCTCTG;TTCTGGAGTGCTCTG)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42680050_42680064delTTCTGGAGTGCTCTG
CLNSRC HGMD
CLNACC RCV000152920.5,