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rs730882207

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882207(C;T)
Make rs730882207(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position112204453
GeneEPB41L4A
is asnp
is mentioned by
dbSNPrs730882207
ebirs730882207
HLIrs730882207
Exacrs730882207
Varsomers730882207
Maprs730882207
PheGenIrs730882207
hapmaprs730882207
1000 genomesrs730882207
hgdprs730882207
ensemblrs730882207
gopubmedrs730882207
geneviewrs730882207
scholarrs730882207
googlers730882207
pharmgkbrs730882207
gwascentralrs730882207
openSNPrs730882207
23andMers730882207
23andMe allrs730882207
SNP Nexus

SNPshotrs730882207
SNPdbers730882207
MSV3drs730882207
GWAS Ctlgrs730882207
Max Magnitude0
ClinVar
Risk rs730882207(T;T)
Alt rs730882207(T;T)
Reference rs730882207(C;C)
Significance Probable-Pathogenic
Disease Failure to thrive Spastic paraplegia
Variation info
Gene EPB41L4A
CLNDBN Failure to thrive Spastic paraplegia
Reversed 1
HGVS NC_000005.9:g.111540150G>A
CLNSRC
CLNACC RCV000162113.1,