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rs1057521140

From SNPedia

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


Make rs1057521140(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92237721
GeneKRIT1
is asnp
is mentioned by
dbSNPrs1057521140
dbSNP (classic)rs1057521140
ClinGenrs1057521140
ebirs1057521140
HLIrs1057521140
Exacrs1057521140
Gnomadrs1057521140
Varsomers1057521140
LitVarrs1057521140
Maprs1057521140
PheGenIrs1057521140
Biobankrs1057521140
1000 genomesrs1057521140
hgdprs1057521140
ensemblrs1057521140
geneviewrs1057521140
scholarrs1057521140
googlers1057521140
pharmgkbrs1057521140
gwascentralrs1057521140
openSNPrs1057521140
23andMers1057521140
23andMe allrs1057521140
SNPshotrs1057521140
SNPdbers1057521140
MSV3drs1057521140
GWAS Ctlgrs1057521140
Max Magnitude5.2

aka c.301G>A (p.Gly101Arg)

ClinVar
Risk rs1057521140(A;A)
Alt rs1057521140(A;A)
Reference Rs1057521140(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene KRIT1
CLNDBN not provided
Reversed 1
HGVS NC_000007.13:g.91867035C>T
CLNSRC
CLNACC RCV000427958.1,