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rs137853139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853139(A;G)
Make rs137853139(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position92236488
GeneKRIT1
is asnp
is mentioned by
dbSNPrs137853139
ebirs137853139
HLIrs137853139
Exacrs137853139
Varsomers137853139
Maprs137853139
PheGenIrs137853139
hapmaprs137853139
1000 genomesrs137853139
hgdprs137853139
ensemblrs137853139
gopubmedrs137853139
geneviewrs137853139
scholarrs137853139
googlers137853139
pharmgkbrs137853139
gwascentralrs137853139
openSNPrs137853139
23andMers137853139
23andMe allrs137853139
SNP Nexus

SNPshotrs137853139
SNPdbers137853139
MSV3drs137853139
GWAS Ctlgrs137853139
Max Magnitude0
OMIM604214
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853139(G;G)
Alt rs137853139(G;G)
Reference rs137853139(A;A)
Significance Pathogenic
Disease Cerebral cavernous malformations 1
Variation info
Gene KRIT1
CLNDBN Cerebral cavernous malformations 1
Reversed 1
HGVS NC_000007.13:g.91865802T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006079.2,