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rs1057517752

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


Make rs1057517752(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92234525
GeneKRIT1
is asnp
is mentioned by
dbSNPrs1057517752
dbSNP (old)rs1057517752
ClinGenrs1057517752
ebirs1057517752
HLIrs1057517752
Exacrs1057517752
Gnomadrs1057517752
Varsomers1057517752
Maprs1057517752
PheGenIrs1057517752
Biobankrs1057517752
1000 genomesrs1057517752
hgdprs1057517752
ensemblrs1057517752
gopubmedrs1057517752
geneviewrs1057517752
scholarrs1057517752
googlers1057517752
pharmgkbrs1057517752
gwascentralrs1057517752
openSNPrs1057517752
23andMers1057517752
23andMe allrs1057517752
SNPshotrs1057517752
SNPdbers1057517752
MSV3drs1057517752
GWAS Ctlgrs1057517752
Max Magnitude5.2

aka c.907_913delTTACTAA (p.Leu303Alafs)

ClinVar
Risk rs1057517752(-;-)
Alt rs1057517752(-;-)
Reference Rs1057517752(TTACTAA;TTACTAA)
Significance Pathogenic
Disease not provided
Variation info
Gene KRIT1
CLNDBN not provided
Reversed 1
HGVS NC_000007.13:g.91863839_91863845delTTAGTAA
CLNSRC
CLNACC RCV000413826.1,