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rs750396637

From SNPedia

Orientationplus
Geno Mag Summary
(GGCCCCG;GGCCCCG) 0 common in clinvar
Make rs750396637(-;-)
Make rs750396637(-;GGCCCCG)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position5568590
GeneEVC2
is asnp
is mentioned by
dbSNPrs750396637
ebirs750396637
HLIrs750396637
Exacrs750396637
Varsomers750396637
Maprs750396637
PheGenIrs750396637
hapmaprs750396637
1000 genomesrs750396637
hgdprs750396637
ensemblrs750396637
gopubmedrs750396637
geneviewrs750396637
scholarrs750396637
googlers750396637
pharmgkbrs750396637
gwascentralrs750396637
openSNPrs750396637
23andMers750396637
23andMe allrs750396637
SNP Nexus

SNPshotrs750396637
SNPdbers750396637
MSV3drs750396637
GWAS Ctlgrs750396637
Max Magnitude0
ClinVar
Risk rs750396637(;)
Alt rs750396637(;)
Reference rs750396637(GGCCCCG;GGCCCCG)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC2
CLNDBN Chondroectodermal dysplasia
Reversed 0
HGVS NC_000004.11:g.5570317_5570323delGGCCCCG
CLNSRC
CLNACC RCV000176128.1,