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rs606231461

From SNPedia

Orientationminus
Geno Mag Summary
(GATGGCAATGGAAGT;GATGGCAATGGAAGT) 0 common in clinvar
Make rs606231461(-;-)
Make rs606231461(-;GATGGCAATGGAAGT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position51481265
GeneDMXL2
is asnp
is mentioned by
dbSNPrs606231461
ebirs606231461
HLIrs606231461
Exacrs606231461
Varsomers606231461
Maprs606231461
PheGenIrs606231461
hapmaprs606231461
1000 genomesrs606231461
hgdprs606231461
ensemblrs606231461
gopubmedrs606231461
geneviewrs606231461
scholarrs606231461
googlers606231461
pharmgkbrs606231461
gwascentralrs606231461
openSNPrs606231461
23andMers606231461
23andMe allrs606231461
SNP Nexus

SNPshotrs606231461
SNPdbers606231461
MSV3drs606231461
GWAS Ctlgrs606231461
Max Magnitude0
ClinVar
Risk rs606231461(;)
Alt rs606231461(;)
Reference rs606231461(GATGGCAATGGAAGT;GATGGCAATGGAAGT)
Significance Pathogenic
Disease Polyendocrine-polyneuropathy syndrome
Variation info
Gene DMXL2
CLNDBN Polyendocrine-polyneuropathy syndrome
Reversed 1
HGVS NC_000015.9:g.51773462_51773476delACTTCCATTGCCATC
CLNSRC OMIM Allelic Variant
CLNACC RCV000148930.3,