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rs199473691

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCC;TCC) 0 common in clinvar
Make rs199473691(ATA;ATA)
Make rs199473691(ATA;TCC)
ReferenceGRCh38 38.1/141
Chromosome19
Position10155029
GeneDNMT1
is asnp
is mentioned by
dbSNPrs199473691
ebirs199473691
HLIrs199473691
Exacrs199473691
Varsomers199473691
Maprs199473691
PheGenIrs199473691
hapmaprs199473691
1000 genomesrs199473691
hgdprs199473691
ensemblrs199473691
gopubmedrs199473691
geneviewrs199473691
scholarrs199473691
googlers199473691
pharmgkbrs199473691
gwascentralrs199473691
openSNPrs199473691
23andMers199473691
23andMe allrs199473691
SNP Nexus

SNPshotrs199473691
SNPdbers199473691
MSV3drs199473691
GWAS Ctlgrs199473691
Max Magnitude0
ClinVar
Risk rs199473691(ATA;ATA)
Alt rs199473691(ATA;ATA)
Reference rs199473691(TCC;TCC)
Significance Pathogenic
Disease Hereditary sensory neuropathy type IE
Variation info
Gene DNMT1
CLNDBN Hereditary sensory neuropathy type IE
Reversed 1
HGVS NC_000019.9:g.10265705_10265707delGGAinsTAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000022530.29,