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rs227368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 0
Make rs227368(A;A)
Make rs227368(A;G)
Make rs227368(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position102690688
GeneMANBA
is asnp
is mentioned by
dbSNPrs227368
ebirs227368
HLIrs227368
Exacrs227368
Varsomers227368
Maprs227368
PheGenIrs227368
hapmaprs227368
1000 genomesrs227368
hgdprs227368
ensemblrs227368
gopubmedrs227368
geneviewrs227368
scholarrs227368
googlers227368
pharmgkbrs227368
gwascentralrs227368
openSNPrs227368
23andMers227368
23andMe allrs227368
SNP Nexus

SNPshotrs227368
SNPdbers227368
MSV3drs227368
GWAS Ctlgrs227368
GMAF0.3972
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene MANBA
allele G
frequency 0.45
sift TOLERATED
HuRef 1103654502060
Disease Association Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system myelin.



GET Evidence
MANBA-V253I
aa_change Val253Ile
aa_change_short V253I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.383436
summary