rs713993044

Orientation

minus

Stabilized

minus

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

Make rs713993044(C;T)

Make rs713993044(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43661285

Gene

MEOX1

is a	snp
is	mentioned by
dbSNP	rs713993044
dbSNP (classic)	rs713993044
ClinGen	rs713993044
ebi	rs713993044
HLI	rs713993044
Exac	rs713993044
Gnomad	rs713993044
Varsome	rs713993044
LitVar	rs713993044
Map	rs713993044
PheGenI	rs713993044
Biobank	rs713993044
1000 genomes	rs713993044
hgdp	rs713993044
ensembl	rs713993044
geneview	rs713993044
scholar	rs713993044
google	rs713993044
pharmgkb	rs713993044
gwascentral	rs713993044
openSNP	rs713993044
23andMe	rs713993044
SNPshot	rs713993044
SNPdbe	rs713993044
MSV3d	rs713993044
GWAS Ctlg	rs713993044

Max Magnitude

0

ClinVar
Risk	rs713993044(T;T)
Alt	rs713993044(T;T)
Reference	Rs713993044(C;C)
Significance	Pathogenic
Disease	Klippel-Feil syndrome 2
Variation	info
Gene	MEOX1
CLNDBN	Klippel-Feil syndrome 2, autosomal recessive
Reversed	1
HGVS	NC_000017.10:g.41738653G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149546.3,