rs104893895

Orientation

plus

Stabilized

plus

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

Make rs104893895(A;A)

Make rs104893895(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

174729222

Gene

MSX2

is a	snp
is	mentioned by
dbSNP	rs104893895
dbSNP (classic)	rs104893895
ClinGen	rs104893895
ebi	rs104893895
HLI	rs104893895
Exac	rs104893895
Gnomad	rs104893895
Varsome	rs104893895
LitVar	rs104893895
Map	rs104893895
PheGenI	rs104893895
Biobank	rs104893895
1000 genomes	rs104893895
hgdp	rs104893895
ensembl	rs104893895
geneview	rs104893895
scholar	rs104893895
google	rs104893895
pharmgkb	rs104893895
gwascentral	rs104893895
openSNP	rs104893895
23andMe	rs104893895
SNPshot	rs104893895
SNPdbe	rs104893895
MSV3d	rs104893895
GWAS Ctlg	rs104893895

Max Magnitude

0

OMIM	123101
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893895(A;A) rs104893895(T;T)
Alt	rs104893895(A;A) rs104893895(T;T)
Reference	Rs104893895(C;C)
Significance	Pathogenic
Disease	Craniosynostosis 2
Variation	info
Gene	MSX2
CLNDBN	Craniosynostosis 2
Reversed	0
HGVS	NC_000005.9:g.174156225C>A; NC_000005.9:g.174156225C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018474.28, RCV000203576.3,

[PMID 16319823] Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.