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rs886041209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAAG) 5.2 Cerebral cavernous angioma associated mutation; variable penetrance
(AAAG;AAAG) 0 common in clinvar


Make rs886041209(-;-)
Chromosome7
Position92241101
GeneKRIT1
is asnp
is mentioned by
dbSNPrs886041209
dbSNP (classic)rs886041209
ClinGenrs886041209
ebirs886041209
HLIrs886041209
Exacrs886041209
Gnomadrs886041209
Varsomers886041209
LitVarrs886041209
Maprs886041209
PheGenIrs886041209
Biobankrs886041209
1000 genomesrs886041209
hgdprs886041209
ensemblrs886041209
geneviewrs886041209
scholarrs886041209
googlers886041209
pharmgkbrs886041209
gwascentralrs886041209
openSNPrs886041209
23andMers886041209
SNPshotrs886041209
SNPdbers886041209
MSV3drs886041209
GWAS Ctlgrs886041209
Max Magnitude5.2

aka c.151_154delAAAG (p.Lys51Phefs)

ClinVar
Risk rs886041209(-;-)
Alt rs886041209(-;-)
Reference Rs886041209(AAAG;AAAG)
Significance Pathogenic
Disease not provided
Variation info
Gene KRIT1
CLNDBN not provided
Reversed 1
HGVS NC_000007.13:g.91870415_91870418delCTTT
CLNSRC
CLNACC RCV000368749.1,