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rs397514621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514621(C;T)
Make rs397514621(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position42336904
GeneMEGF8
is asnp
is mentioned by
dbSNPrs397514621
ebirs397514621
HLIrs397514621
Exacrs397514621
Varsomers397514621
Maprs397514621
PheGenIrs397514621
hapmaprs397514621
1000 genomesrs397514621
hgdprs397514621
ensemblrs397514621
gopubmedrs397514621
geneviewrs397514621
scholarrs397514621
googlers397514621
pharmgkbrs397514621
gwascentralrs397514621
openSNPrs397514621
23andMers397514621
23andMe allrs397514621
SNP Nexus

SNPshotrs397514621
SNPdbers397514621
MSV3drs397514621
GWAS Ctlgrs397514621
Max Magnitude0
ClinVar
Risk rs397514621(T;T)
Alt rs397514621(T;T)
Reference rs397514621(C;C)
Significance Pathogenic
Disease Carpenter syndrome 2
Variation info
Gene MEGF8
CLNDBN Carpenter syndrome 2
Reversed 0
HGVS NC_000019.9:g.42841056C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033074.3,