Have questions? Visit https://www.reddit.com/r/SNPedia

rs727502804

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727502804(-;-)
Make rs727502804(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position112756620
GeneCKAP2L
is asnp
is mentioned by
dbSNPrs727502804
ebirs727502804
HLIrs727502804
Exacrs727502804
Varsomers727502804
Maprs727502804
PheGenIrs727502804
hapmaprs727502804
1000 genomesrs727502804
hgdprs727502804
ensemblrs727502804
gopubmedrs727502804
geneviewrs727502804
scholarrs727502804
googlers727502804
pharmgkbrs727502804
gwascentralrs727502804
openSNPrs727502804
23andMers727502804
23andMe allrs727502804
SNP Nexus

SNPshotrs727502804
SNPdbers727502804
MSV3drs727502804
GWAS Ctlgrs727502804
Max Magnitude0
ClinVar
Risk rs727502804(;)
Alt rs727502804(;)
Reference rs727502804(A;A)
Significance Pathogenic
Disease Filippi syndrome
Variation info
Gene CKAP2L
CLNDBN Filippi syndrome
Reversed 1
HGVS NC_000002.11:g.113514197delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000149782.4,