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rs548949031

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs548949031(A;G)
Make rs548949031(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position112764597
GeneCKAP2L
is asnp
is mentioned by
dbSNPrs548949031
ebirs548949031
HLIrs548949031
Exacrs548949031
Varsomers548949031
Maprs548949031
PheGenIrs548949031
hapmaprs548949031
1000 genomesrs548949031
hgdprs548949031
ensemblrs548949031
gopubmedrs548949031
geneviewrs548949031
scholarrs548949031
googlers548949031
pharmgkbrs548949031
gwascentralrs548949031
openSNPrs548949031
23andMers548949031
23andMe allrs548949031
SNP Nexus

SNPshotrs548949031
SNPdbers548949031
MSV3drs548949031
GWAS Ctlgrs548949031
Max Magnitude0
ClinVar
Risk rs548949031(G;G)
Alt rs548949031(G;G)
Reference rs548949031(A;A)
Significance Pathogenic
Disease Filippi syndrome
Variation info
Gene CKAP2L
CLNDBN Filippi syndrome
Reversed 0
HGVS NC_000002.11:g.113522174A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149780.3,