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rs28928868

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28928868(G;T)
Make rs28928868(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1806164
GeneFGFR3
is asnp
is mentioned by
dbSNPrs28928868
ebirs28928868
HLIrs28928868
Exacrs28928868
Varsomers28928868
Maprs28928868
PheGenIrs28928868
hapmaprs28928868
1000 genomesrs28928868
hgdprs28928868
ensemblrs28928868
gopubmedrs28928868
geneviewrs28928868
scholarrs28928868
googlers28928868
pharmgkbrs28928868
gwascentralrs28928868
openSNPrs28928868
23andMers28928868
23andMe allrs28928868
SNP Nexus

SNPshotrs28928868
SNPdbers28928868
MSV3drs28928868
GWAS Ctlgrs28928868
Max Magnitude0
OMIM134934
DescHYPOCHONDROPLASIA
Variant0020
Relatedalso
Neighborrs28928869
Distance5


ClinVar
Risk rs28928868(C,T;C,T)
Alt rs28928868(C,T;C,T)
Reference rs28928868(G;G)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1807891G>C; NC_000004.11:g.1807891G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017756.29, RCV000017755.28,