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rs368593151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs368593151(A;A)
Make rs368593151(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position16301454
GeneISPD
is asnp
is mentioned by
dbSNPrs368593151
ebirs368593151
HLIrs368593151
Exacrs368593151
Varsomers368593151
Maprs368593151
PheGenIrs368593151
hapmaprs368593151
1000 genomesrs368593151
hgdprs368593151
ensemblrs368593151
gopubmedrs368593151
geneviewrs368593151
scholarrs368593151
googlers368593151
pharmgkbrs368593151
gwascentralrs368593151
openSNPrs368593151
23andMers368593151
23andMe allrs368593151
SNP Nexus

SNPshotrs368593151
SNPdbers368593151
MSV3drs368593151
GWAS Ctlgrs368593151
Max Magnitude0
ClinVar
Risk rs368593151(A;A)
Alt rs368593151(A;A)
Reference rs368593151(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene ISPD
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Reversed 0
HGVS NC_000007.13:g.16341079G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024276.3,