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rs1057517754

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


Make rs1057517754(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92221937
GeneKRIT1
is asnp
is mentioned by
dbSNPrs1057517754
dbSNP (old)rs1057517754
ClinGenrs1057517754
ebirs1057517754
HLIrs1057517754
Exacrs1057517754
Gnomadrs1057517754
Varsomers1057517754
Maprs1057517754
PheGenIrs1057517754
Biobankrs1057517754
1000 genomesrs1057517754
hgdprs1057517754
ensemblrs1057517754
gopubmedrs1057517754
geneviewrs1057517754
scholarrs1057517754
googlers1057517754
pharmgkbrs1057517754
gwascentralrs1057517754
openSNPrs1057517754
23andMers1057517754
23andMe allrs1057517754
SNPshotrs1057517754
SNPdbers1057517754
MSV3drs1057517754
GWAS Ctlgrs1057517754
Max Magnitude5.2

aka c.1524_1528delAAGAA (p.Arg510Cysfs)

ClinVar
Risk rs1057517754(-;-)
Alt rs1057517754(-;-)
Reference Rs1057517754(AAGAA;AAGAA)
Significance Pathogenic
Disease not provided
Variation info
Gene KRIT1
CLNDBN not provided
Reversed 1
HGVS NC_000007.13:g.91851251_91851255delTTCTT
CLNSRC
CLNACC RCV000413088.1,