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rs864309720

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309720(C;T)
Make rs864309720(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position35101976
GeneMAPRE2
is asnp
is mentioned by
dbSNPrs864309720
ebirs864309720
HLIrs864309720
Exacrs864309720
Varsomers864309720
Maprs864309720
PheGenIrs864309720
hapmaprs864309720
1000 genomesrs864309720
hgdprs864309720
ensemblrs864309720
gopubmedrs864309720
geneviewrs864309720
scholarrs864309720
googlers864309720
pharmgkbrs864309720
gwascentralrs864309720
openSNPrs864309720
23andMers864309720
23andMe allrs864309720
SNP Nexus

SNPshotrs864309720
SNPdbers864309720
MSV3drs864309720
GWAS Ctlgrs864309720
Max Magnitude0
ClinVar
Risk rs864309720(T;T)
Alt rs864309720(T;T)
Reference rs864309720(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.32681940C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203279.1,