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rs749838192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs749838192(-;TGAGTCACTGCTGCATGCT)
Make rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50524395
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs749838192
dbSNP (old)rs749838192
ClinGenrs749838192
ebirs749838192
HLIrs749838192
Exacrs749838192
Gnomadrs749838192
Varsomers749838192
Maprs749838192
PheGenIrs749838192
Biobankrs749838192
1000 genomesrs749838192
hgdprs749838192
ensemblrs749838192
gopubmedrs749838192
geneviewrs749838192
scholarrs749838192
googlers749838192
pharmgkbrs749838192
gwascentralrs749838192
openSNPrs749838192
23andMers749838192
23andMe allrs749838192
SNP Nexus

SNPshotrs749838192
SNPdbers749838192
MSV3drs749838192
GWAS Ctlgrs749838192
Max Magnitude0
ClinVar
Risk rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT)
Alt rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT)
Reference Rs749838192(-;-)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy
Variation info
Gene NCAPH2 SCO2
CLNDBN Primary dilated cardiomyopathy
Reversed 0
HGVS NC_000022.10:g.50962824_50962825insTGAGTCACTGCTGCATGCT
CLNSRC
CLNACC RCV000208004.1,