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rs1057518665

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


Make rs1057518665(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92241108
GeneKRIT1
is asnp
is mentioned by
dbSNPrs1057518665
dbSNP (old)rs1057518665
ClinGenrs1057518665
ebirs1057518665
HLIrs1057518665
Exacrs1057518665
Gnomadrs1057518665
Varsomers1057518665
Maprs1057518665
PheGenIrs1057518665
Biobankrs1057518665
1000 genomesrs1057518665
hgdprs1057518665
ensemblrs1057518665
gopubmedrs1057518665
geneviewrs1057518665
scholarrs1057518665
googlers1057518665
pharmgkbrs1057518665
gwascentralrs1057518665
openSNPrs1057518665
23andMers1057518665
23andMe allrs1057518665
SNPshotrs1057518665
SNPdbers1057518665
MSV3drs1057518665
GWAS Ctlgrs1057518665
Max Magnitude5.2

aka c.146_147delGA (p.Arg49Lysfs)

ClinVar
Risk rs1057518665(-;-)
Alt rs1057518665(-;-)
Reference Rs1057518665(GA;GA)
Significance Probable-Pathogenic
Disease Cerebral cavernous malformation
Variation info
Gene KRIT1
CLNDBN Cerebral cavernous malformation
Reversed 1
HGVS NC_000007.13:g.91870422_91870423delTC
CLNSRC
CLNACC RCV000415415.1,