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rs137852739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852739(C;G)
Make rs137852739(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position16477736
GeneFAM134B
is asnp
is mentioned by
dbSNPrs137852739
dbSNP (classic)rs137852739
ClinGenrs137852739
ebirs137852739
HLIrs137852739
Exacrs137852739
Gnomadrs137852739
Varsomers137852739
LitVarrs137852739
Maprs137852739
PheGenIrs137852739
Biobankrs137852739
1000 genomesrs137852739
hgdprs137852739
ensemblrs137852739
geneviewrs137852739
scholarrs137852739
googlers137852739
pharmgkbrs137852739
gwascentralrs137852739
openSNPrs137852739
23andMers137852739
SNPshotrs137852739
SNPdbers137852739
MSV3drs137852739
GWAS Ctlgrs137852739
Max Magnitude0
OMIM613114
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852739(G;G) rs137852739(T;T)
Alt rs137852739(G;G) rs137852739(T;T)
Reference Rs137852739(C;C)
Significance Pathogenic
Disease Hereditary sensory and autonomic neuropathy type IIB Hereditary sensory and autonomic neuropathy type IIA not provided
Variation info
Gene FAM134B
CLNDBN Hereditary sensory and autonomic neuropathy type IIB Hereditary sensory and autonomic neuropathy type IIA not provided
Reversed 1
HGVS NC_000005.9:g.16477845G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000356.3, RCV000020422.1, RCV000235652.1,


OMIM201300
Desc
Variant
Relatedalso