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rs28931615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28931615(A;A)
Make rs28931615(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position1804426
GeneFGFR3
is asnp
is mentioned by
dbSNPrs28931615
ebirs28931615
HLIrs28931615
Exacrs28931615
Varsomers28931615
Maprs28931615
PheGenIrs28931615
hapmaprs28931615
1000 genomesrs28931615
hgdprs28931615
ensemblrs28931615
gopubmedrs28931615
geneviewrs28931615
scholarrs28931615
googlers28931615
pharmgkbrs28931615
gwascentralrs28931615
openSNPrs28931615
23andMers28931615
23andMe allrs28931615
SNP Nexus

SNPshotrs28931615
SNPdbers28931615
MSV3drs28931615
GWAS Ctlgrs28931615
Max Magnitude0
OMIM134934
DescCROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
Variant0011
Relatedalso
Neighborrs28931614
Distance34


ClinVar
Risk rs28931615(A;A)
Alt rs28931615(A;A)
Reference rs28931615(C;C)
Significance Pathogenic
Disease Crouzon syndrome with acanthosis nigricans Craniosynostosis
Variation info
Gene FGFR3
CLNDBN Crouzon syndrome with acanthosis nigricans Craniosynostosis
Reversed 0
HGVS NC_000004.11:g.1806153C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017726.24, RCV000194803.1,