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rs397515428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515428(A;G)
Make rs397515428(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position42375537
GeneMEGF8
is asnp
is mentioned by
dbSNPrs397515428
ebirs397515428
HLIrs397515428
Exacrs397515428
Varsomers397515428
Maprs397515428
PheGenIrs397515428
hapmaprs397515428
1000 genomesrs397515428
hgdprs397515428
ensemblrs397515428
gopubmedrs397515428
geneviewrs397515428
scholarrs397515428
googlers397515428
pharmgkbrs397515428
gwascentralrs397515428
openSNPrs397515428
23andMers397515428
23andMe allrs397515428
SNP Nexus

SNPshotrs397515428
SNPdbers397515428
MSV3drs397515428
GWAS Ctlgrs397515428
Max Magnitude0
ClinVar
Risk rs397515428(G;G)
Alt rs397515428(G;G)
Reference rs397515428(A;A)
Significance Pathogenic
Disease Carpenter syndrome 2
Variation info
Gene MEGF8
CLNDBN Carpenter syndrome 2
Reversed 0
HGVS NC_000019.9:g.42879689A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033073.2,