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rs727502805

From SNPedia

Orientationminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs727502805(-;-)
Make rs727502805(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position112756816
GeneCKAP2L
is asnp
is mentioned by
dbSNPrs727502805
ebirs727502805
HLIrs727502805
Exacrs727502805
Varsomers727502805
Maprs727502805
PheGenIrs727502805
hapmaprs727502805
1000 genomesrs727502805
hgdprs727502805
ensemblrs727502805
gopubmedrs727502805
geneviewrs727502805
scholarrs727502805
googlers727502805
pharmgkbrs727502805
gwascentralrs727502805
openSNPrs727502805
23andMers727502805
23andMe allrs727502805
SNP Nexus

SNPshotrs727502805
SNPdbers727502805
MSV3drs727502805
GWAS Ctlgrs727502805
Max Magnitude0
ClinVar
Risk rs727502805(;)
Alt rs727502805(;)
Reference rs727502805(AA;AA)
Significance Pathogenic
Disease Filippi syndrome
Variation info
Gene CKAP2L
CLNDBN Filippi syndrome
Reversed 1
HGVS NC_000002.11:g.113514393_113514394delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000149784.3,