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rs786205076

From SNPedia

Orientationplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs786205076(-;-)
Make rs786205076(-;GG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position39665468
GeneTCAP
is asnp
is mentioned by
dbSNPrs786205076
ebirs786205076
HLIrs786205076
Exacrs786205076
Varsomers786205076
Maprs786205076
PheGenIrs786205076
hapmaprs786205076
1000 genomesrs786205076
hgdprs786205076
ensemblrs786205076
gopubmedrs786205076
geneviewrs786205076
scholarrs786205076
googlers786205076
pharmgkbrs786205076
gwascentralrs786205076
openSNPrs786205076
23andMers786205076
23andMe allrs786205076
SNP Nexus

SNPshotrs786205076
SNPdbers786205076
MSV3drs786205076
GWAS Ctlgrs786205076
Max Magnitude0
ClinVar
Risk rs786205076(;)
Alt rs786205076(;)
Reference rs786205076(GG;GG)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene TCAP
CLNDBN Limb-girdle muscular dystrophy, type 2G
Reversed 0
HGVS NC_000017.10:g.37821721_37821722delGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005862.3,