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rs864309717

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864309717(A;G)
Make rs864309717(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position35097455
GeneMAPRE2
is asnp
is mentioned by
dbSNPrs864309717
ebirs864309717
HLIrs864309717
Exacrs864309717
Varsomers864309717
Maprs864309717
PheGenIrs864309717
hapmaprs864309717
1000 genomesrs864309717
hgdprs864309717
ensemblrs864309717
gopubmedrs864309717
geneviewrs864309717
scholarrs864309717
googlers864309717
pharmgkbrs864309717
gwascentralrs864309717
openSNPrs864309717
23andMers864309717
23andMe allrs864309717
SNP Nexus

SNPshotrs864309717
SNPdbers864309717
MSV3drs864309717
GWAS Ctlgrs864309717
Max Magnitude0
ClinVar
Risk rs864309717(G;G)
Alt rs864309717(G;G)
Reference rs864309717(A;A)
Significance Pathogenic
Disease Skin creases
Variation info
Gene MAPRE2
CLNDBN Skin creases, congenital symmetric circumferential, 2
Reversed 0
HGVS NC_000018.9:g.32677419A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000203280.1,