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rs119485092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119485092(A;A)
Make rs119485092(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position81354535
GeneGAN
is asnp
is mentioned by
dbSNPrs119485092
dbSNP (classic)rs119485092
ClinGenrs119485092
ebirs119485092
HLIrs119485092
Exacrs119485092
Gnomadrs119485092
Varsomers119485092
LitVarrs119485092
Maprs119485092
PheGenIrs119485092
Biobankrs119485092
1000 genomesrs119485092
hgdprs119485092
ensemblrs119485092
geneviewrs119485092
scholarrs119485092
googlers119485092
pharmgkbrs119485092
gwascentralrs119485092
openSNPrs119485092
23andMers119485092
SNPshotrs119485092
SNPdbers119485092
MSV3drs119485092
GWAS Ctlgrs119485092
Max Magnitude0
OMIM605379
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119485092(A;A) rs119485092(T;T)
Alt rs119485092(A;A) rs119485092(T;T)
Reference Rs119485092(G;G)
Significance Pathogenic
Disease Giant axonal neuropathy not provided
Variation info
Gene GAN
CLNDBN Giant axonal neuropathy not provided
Reversed 0
HGVS NC_000016.9:g.81388140G>A; NC_000016.9:g.81388140G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005338.3, RCV000235676.1,