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rs1057519299

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519299(-;-)
Make rs1057519299(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position151421321
GeneRMND1
is asnp
is mentioned by
dbSNPrs1057519299
dbSNP (old)rs1057519299
ClinGenrs1057519299
ebirs1057519299
HLIrs1057519299
Exacrs1057519299
Gnomadrs1057519299
Varsomers1057519299
Maprs1057519299
PheGenIrs1057519299
Biobankrs1057519299
1000 genomesrs1057519299
hgdprs1057519299
ensemblrs1057519299
gopubmedrs1057519299
geneviewrs1057519299
scholarrs1057519299
googlers1057519299
pharmgkbrs1057519299
gwascentralrs1057519299
openSNPrs1057519299
23andMers1057519299
23andMe allrs1057519299
SNPshotrs1057519299
SNPdbers1057519299
MSV3drs1057519299
GWAS Ctlgrs1057519299
Max Magnitude0
ClinVar
Risk rs1057519299(-;-)
Alt rs1057519299(-;-)
Reference Rs1057519299(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 11
Variation info
Gene RMND1
CLNDBN Combined oxidative phosphorylation deficiency 11
Reversed 1
HGVS NC_000006.11:g.151742456delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000415545.1,