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rs727502803

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727502803(-;-)
Make rs727502803(-;TT)
Make rs727502803(TT;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position112762528
GeneCKAP2L
is asnp
is mentioned by
dbSNPrs727502803
ebirs727502803
HLIrs727502803
Exacrs727502803
Varsomers727502803
Maprs727502803
PheGenIrs727502803
hapmaprs727502803
1000 genomesrs727502803
hgdprs727502803
ensemblrs727502803
gopubmedrs727502803
geneviewrs727502803
scholarrs727502803
googlers727502803
pharmgkbrs727502803
gwascentralrs727502803
openSNPrs727502803
23andMers727502803
23andMe allrs727502803
SNP Nexus

SNPshotrs727502803
SNPdbers727502803
MSV3drs727502803
GWAS Ctlgrs727502803
Max Magnitude0
ClinVar
Risk rs727502803(TT;TT)
Alt rs727502803(TT;TT)
Reference rs727502803(;)
Significance Pathogenic
Disease Filippi syndrome
Variation info
Gene CKAP2L
CLNDBN Filippi syndrome
Reversed 1
HGVS NC_000002.11:g.113520105_113520106insAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000149781.3,