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rs1057516075

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516075(A;A)
Make rs1057516075(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position15246
GeneCYTB
is asnp
is mentioned by
dbSNPrs1057516075
dbSNP (old)rs1057516075
ClinGenrs1057516075
ebirs1057516075
HLIrs1057516075
Exacrs1057516075
Gnomadrs1057516075
Varsomers1057516075
Maprs1057516075
PheGenIrs1057516075
Biobankrs1057516075
1000 genomesrs1057516075
hgdprs1057516075
ensemblrs1057516075
gopubmedrs1057516075
geneviewrs1057516075
scholarrs1057516075
googlers1057516075
pharmgkbrs1057516075
gwascentralrs1057516075
openSNPrs1057516075
23andMers1057516075
23andMe allrs1057516075
SNPshotrs1057516075
SNPdbers1057516075
MSV3drs1057516075
GWAS Ctlgrs1057516075
Max Magnitude0
ClinVar
Risk rs1057516075(A;A)
Alt rs1057516075(A;A)
Reference Rs1057516075(G;G)
Significance Probable-Pathogenic
Disease Developmental delay Hearing impairment Macrocephaly
Variation info
Gene CYTB
CLNDBN Developmental delay Hearing impairment Macrocephaly
Reversed 0
HGVS NC_012920.1:m.15246G>A
CLNSRC
CLNACC RCV000408934.1,