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rs104893895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893895(A;A)
Make rs104893895(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position174729222
GeneMSX2
is asnp
is mentioned by
dbSNPrs104893895
dbSNP (classic)rs104893895
ClinGenrs104893895
ebirs104893895
HLIrs104893895
Exacrs104893895
Gnomadrs104893895
Varsomers104893895
LitVarrs104893895
Maprs104893895
PheGenIrs104893895
Biobankrs104893895
1000 genomesrs104893895
hgdprs104893895
ensemblrs104893895
geneviewrs104893895
scholarrs104893895
googlers104893895
pharmgkbrs104893895
gwascentralrs104893895
openSNPrs104893895
23andMers104893895
SNPshotrs104893895
SNPdbers104893895
MSV3drs104893895
GWAS Ctlgrs104893895
Max Magnitude0
OMIM123101
Desc
Variant0001
Relatedalso
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 16319823OA-icon.png] Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.