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rs864309718

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309718(C;T)
Make rs864309718(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position35102003
GeneMAPRE2
is asnp
is mentioned by
dbSNPrs864309718
ebirs864309718
HLIrs864309718
Exacrs864309718
Varsomers864309718
Maprs864309718
PheGenIrs864309718
hapmaprs864309718
1000 genomesrs864309718
hgdprs864309718
ensemblrs864309718
gopubmedrs864309718
geneviewrs864309718
scholarrs864309718
googlers864309718
pharmgkbrs864309718
gwascentralrs864309718
openSNPrs864309718
23andMers864309718
23andMe allrs864309718
SNP Nexus

SNPshotrs864309718
SNPdbers864309718
MSV3drs864309718
GWAS Ctlgrs864309718
Max Magnitude0
ClinVar
Risk rs864309718(T;T)
Alt rs864309718(T;T)
Reference rs864309718(C;C)
Significance Pathogenic
Disease Skin creases
Variation info
Gene MAPRE2
CLNDBN Skin creases, congenital symmetric circumferential, 2
Reversed 0
HGVS NC_000018.9:g.32681967C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203284.1,