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rs587777016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777016(A;C)
Make rs587777016(C;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position228175383
GeneIBA57
is asnp
is mentioned by
dbSNPrs587777016
dbSNP (old)rs587777016
ClinGenrs587777016
ebirs587777016
HLIrs587777016
Exacrs587777016
Varsomers587777016
Maprs587777016
PheGenIrs587777016
Biobankrs587777016
1000 genomesrs587777016
hgdprs587777016
ensemblrs587777016
gopubmedrs587777016
geneviewrs587777016
scholarrs587777016
googlers587777016
pharmgkbrs587777016
gwascentralrs587777016
openSNPrs587777016
23andMers587777016
23andMe allrs587777016
SNP Nexus

SNPshotrs587777016
SNPdbers587777016
MSV3drs587777016
GWAS Ctlgrs587777016
Max Magnitude0
ClinVar
Risk rs587777016(C;C)
Alt rs587777016(C;C)
Reference Rs587777016(A;A)
Significance Pathogenic
Disease Multiple mitochondrial dysfunctions syndrome 3
Variation info
Gene IBA57
CLNDBN Multiple mitochondrial dysfunctions syndrome 3
Reversed 0
HGVS NC_000001.10:g.228363084A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000050221.3,