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rs375851208

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375851208(C;T)
Make rs375851208(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position127599441
GeneMCM2
is asnp
is mentioned by
dbSNPrs375851208
ebirs375851208
HLIrs375851208
Exacrs375851208
Varsomers375851208
Maprs375851208
PheGenIrs375851208
hapmaprs375851208
1000 genomesrs375851208
hgdprs375851208
ensemblrs375851208
gopubmedrs375851208
geneviewrs375851208
scholarrs375851208
googlers375851208
pharmgkbrs375851208
gwascentralrs375851208
openSNPrs375851208
23andMers375851208
23andMe allrs375851208
SNP Nexus

SNPshotrs375851208
SNPdbers375851208
MSV3drs375851208
GWAS Ctlgrs375851208
Max Magnitude0
ClinVar
Risk rs375851208(T;T)
Alt rs375851208(T;T)
Reference rs375851208(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MCM2
CLNDBN Deafness, autosomal dominant 70
Reversed 0
HGVS NC_000003.11:g.127318284C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000223937.1,