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rs104894520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6.1 Charcot-Marie-Tooth Disease, type 1
(C;C) 0 common in clinvar


Make rs104894520(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position11553566
GeneLITAF
is asnp
is mentioned by
dbSNPrs104894520
dbSNP (classic)rs104894520
ClinGenrs104894520
ebirs104894520
HLIrs104894520
Exacrs104894520
Gnomadrs104894520
Varsomers104894520
LitVarrs104894520
Maprs104894520
PheGenIrs104894520
Biobankrs104894520
1000 genomesrs104894520
hgdprs104894520
ensemblrs104894520
geneviewrs104894520
scholarrs104894520
googlers104894520
pharmgkbrs104894520
gwascentralrs104894520
openSNPrs104894520
23andMers104894520
SNPshotrs104894520
SNPdbers104894520
MSV3drs104894520
GWAS Ctlgrs104894520
Max Magnitude6.1
OMIM603795
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894520(A;A)
Alt rs104894520(A;A)
Reference Rs104894520(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene LITAF
CLNDBN Charcot-Marie-Tooth disease, type 1C
Reversed 1
HGVS NC_000016.9:g.11647422G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006430.3,