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rs1057517753

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


Make rs1057517753(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92225770
GeneKRIT1
is asnp
is mentioned by
dbSNPrs1057517753
dbSNP (old)rs1057517753
ClinGenrs1057517753
ebirs1057517753
HLIrs1057517753
Exacrs1057517753
Gnomadrs1057517753
Varsomers1057517753
Maprs1057517753
PheGenIrs1057517753
Biobankrs1057517753
1000 genomesrs1057517753
hgdprs1057517753
ensemblrs1057517753
gopubmedrs1057517753
geneviewrs1057517753
scholarrs1057517753
googlers1057517753
pharmgkbrs1057517753
gwascentralrs1057517753
openSNPrs1057517753
23andMers1057517753
23andMe allrs1057517753
SNPshotrs1057517753
SNPdbers1057517753
MSV3drs1057517753
GWAS Ctlgrs1057517753
Max Magnitude5.2

aka c.1201_1204delCAAA (p.Gln401Thrfs)

ClinVar
Risk rs1057517753(-;-)
Alt rs1057517753(-;-)
Reference Rs1057517753(CAAA;CAAA)
Significance Pathogenic
Disease not provided
Variation info
Gene KRIT1
CLNDBN not provided
Reversed 1
HGVS NC_000007.13:g.91855084_91855087delTTTG
CLNSRC
CLNACC RCV000414484.1,