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rs1064793348

From SNPedia

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


Make rs1064793348(-;-)
Chromosome7
Position92213260
GeneKRIT1
is asnp
is mentioned by
dbSNPrs1064793348
dbSNP (old)rs1064793348
ClinGenrs1064793348
ebirs1064793348
HLIrs1064793348
Exacrs1064793348
Gnomadrs1064793348
Varsomers1064793348
Maprs1064793348
PheGenIrs1064793348
Biobankrs1064793348
1000 genomesrs1064793348
hgdprs1064793348
ensemblrs1064793348
gopubmedrs1064793348
geneviewrs1064793348
scholarrs1064793348
googlers1064793348
pharmgkbrs1064793348
gwascentralrs1064793348
openSNPrs1064793348
23andMers1064793348
23andMe allrs1064793348
SNPshotrs1064793348
SNPdbers1064793348
MSV3drs1064793348
GWAS Ctlgrs1064793348
Max Magnitude5.2

aka c.1959_1960delTA (p.His653Glnfs); note that dbSNP indicates "refSNP cluster id(rs): rs1064793348 is an invalid snp_id value" even though it is listed in ClinVar and Ensembl

ClinVar
Risk rs1064793348(-;-)
Alt rs1064793348(-;-)
Reference Rs1064793348(TA;TA)
Significance Pathogenic
Disease not provided
Variation info
Gene KRIT1
CLNDBN not provided
Reversed 1
HGVS NC_000007.13:g.91842574_91842575delTA
CLNSRC
CLNACC RCV000478690.1,