rs548949031

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs548949031(A;G)

Make rs548949031(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

112764597

Gene

CKAP2L

is a	snp
is	mentioned by
dbSNP	rs548949031
dbSNP (classic)	rs548949031
ClinGen	rs548949031
ebi	rs548949031
HLI	rs548949031
Exac	rs548949031
Gnomad	rs548949031
Varsome	rs548949031
LitVar	rs548949031
Map	rs548949031
PheGenI	rs548949031
Biobank	rs548949031
1000 genomes	rs548949031
hgdp	rs548949031
ensembl	rs548949031
geneview	rs548949031
scholar	rs548949031
google	rs548949031
pharmgkb	rs548949031
gwascentral	rs548949031
openSNP	rs548949031
23andMe	rs548949031
SNPshot	rs548949031
SNPdbe	rs548949031
MSV3d	rs548949031
GWAS Ctlg	rs548949031

Max Magnitude

0

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,