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rs11544803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11544803(C;T)
Make rs11544803(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132867015
GeneGDF9, UQCRQ
is asnp
is mentioned by
dbSNPrs11544803
dbSNP (classic)rs11544803
ClinGenrs11544803
ebirs11544803
HLIrs11544803
Exacrs11544803
Gnomadrs11544803
Varsomers11544803
LitVarrs11544803
Maprs11544803
PheGenIrs11544803
Biobankrs11544803
1000 genomesrs11544803
hgdprs11544803
ensemblrs11544803
geneviewrs11544803
scholarrs11544803
googlers11544803
pharmgkbrs11544803
gwascentralrs11544803
openSNPrs11544803
23andMers11544803
SNPshotrs11544803
SNPdbers11544803
MSV3drs11544803
GWAS Ctlgrs11544803
Max Magnitude0
OMIM612080
Desc
Variant0001
Relatedalso


ClinVar
Risk rs11544803(T;T)
Alt rs11544803(T;T)
Reference Rs11544803(C;C)
Significance Pathogenic
Disease Mitochondrial complex III deficiency not provided
Variation info
Gene GDF9 UQCRQ
CLNDBN Mitochondrial complex III deficiency, nuclear type 4 not provided
Reversed 0
HGVS NC_000005.9:g.132202707C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000765.3, RCV000437264.1,