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rs2866413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0
(G;G) 0 common in clinvar


Make rs2866413(A;A)
ReferenceGRCh38 38.1/141
Chromosome4
Position102635920
GeneMANBA
is asnp
is mentioned by
dbSNPrs2866413
ebirs2866413
HLIrs2866413
Exacrs2866413
Varsomers2866413
Maprs2866413
PheGenIrs2866413
hapmaprs2866413
1000 genomesrs2866413
hgdprs2866413
ensemblrs2866413
gopubmedrs2866413
geneviewrs2866413
scholarrs2866413
googlers2866413
pharmgkbrs2866413
gwascentralrs2866413
openSNPrs2866413
23andMers2866413
23andMe allrs2866413
SNP Nexus

SNPshotrs2866413
SNPdbers2866413
MSV3drs2866413
GWAS Ctlgrs2866413
GMAF0.449
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MANBA
allele A
frequency 0.408
sift TOLERATED
HuRef 1103654501958
Disease Association Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system myelin.



GET Evidence
MANBA-T701M
aa_change Thr701Met
aa_change_short T701M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.551589
summary



ClinVar
Risk rs2866413(A;A)
Alt rs2866413(A;A)
Reference rs2866413(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MANBA
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.103557077G>A
CLNSRC ClinVar Emory University
CLNACC RCV000081336.4,