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rs886039402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039402(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome7
Position92222966
GeneKRIT1
is asnp
is mentioned by
dbSNPrs886039402
dbSNP (classic)rs886039402
ClinGenrs886039402
ebirs886039402
HLIrs886039402
Exacrs886039402
Gnomadrs886039402
Varsomers886039402
LitVarrs886039402
Maprs886039402
PheGenIrs886039402
Biobankrs886039402
1000 genomesrs886039402
hgdprs886039402
ensemblrs886039402
geneviewrs886039402
scholarrs886039402
googlers886039402
pharmgkbrs886039402
gwascentralrs886039402
openSNPrs886039402
23andMers886039402
SNPshotrs886039402
SNPdbers886039402
MSV3drs886039402
GWAS Ctlgrs886039402
Max Magnitude0

aka c.1267C>T (p.Arg423Ter)

ClinVar
Risk rs886039402(T;T)
Alt rs886039402(T;T)
Reference Rs886039402(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene KRIT1
CLNDBN not provided
Reversed 1
HGVS NC_000007.13:g.91852280G>A
CLNSRC
CLNACC RCV000255480.1,