Rs104894520

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894520(A;A)
Make rs104894520(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position11553566
GeneLITAF
is asnp
is mentioned by
dbSNPrs104894520
PheGenIrs104894520
nextbiors104894520
hapmaprs104894520
1000 genomesrs104894520
hgdprs104894520
ensemblrs104894520
gopubmedrs104894520
geneviewrs104894520
scholarrs104894520
googlers104894520
pharmgkbrs104894520
gwascentralrs104894520
openSNPrs104894520
23andMers104894520
23andMe allrs104894520
SNP Nexus

SNPshotrs104894520
SNPdbers104894520
MSV3drs104894520
Max Magnitude0
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 IC
Reversed 1
HGVS NC_000016.9:g.11647422G>T
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000006430.2,