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rs397514735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514735(G;G)
Make rs397514735(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position10795378
GeneDNM2
is asnp
is mentioned by
dbSNPrs397514735
ebirs397514735
HLIrs397514735
Exacrs397514735
Varsomers397514735
Maprs397514735
PheGenIrs397514735
hapmaprs397514735
1000 genomesrs397514735
hgdprs397514735
ensemblrs397514735
gopubmedrs397514735
geneviewrs397514735
scholarrs397514735
googlers397514735
pharmgkbrs397514735
gwascentralrs397514735
openSNPrs397514735
23andMers397514735
23andMe allrs397514735
SNP Nexus

SNPshotrs397514735
SNPdbers397514735
MSV3drs397514735
GWAS Ctlgrs397514735
Max Magnitude0
ClinVar
Risk rs397514735(G;G)
Alt rs397514735(G;G)
Reference rs397514735(T;T)
Significance Pathogenic
Disease Lethal congenital contracture syndrome 5
Variation info
Gene DNM2
CLNDBN Lethal congenital contracture syndrome 5
Reversed 0
HGVS NC_000019.9:g.10906054T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054501.5,