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rs28933068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28933068(C;G)
Make rs28933068(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1805644
GeneFGFR3
is asnp
is mentioned by
dbSNPrs28933068
ebirs28933068
HLIrs28933068
Exacrs28933068
Varsomers28933068
Maprs28933068
PheGenIrs28933068
hapmaprs28933068
1000 genomesrs28933068
hgdprs28933068
ensemblrs28933068
gopubmedrs28933068
geneviewrs28933068
scholarrs28933068
googlers28933068
pharmgkbrs28933068
gwascentralrs28933068
openSNPrs28933068
23andMers28933068
23andMe allrs28933068
SNP Nexus

SNPshotrs28933068
SNPdbers28933068
MSV3drs28933068
GWAS Ctlgrs28933068
Max Magnitude0
OMIM134934
DescHYPOCHONDROPLASIA
Variant0010
Relatedalso
Neighborrs28928869
Distance515


ClinVar
Risk rs28933068(A,G,T;A,G,T)
Alt rs28933068(A,G,T;A,G,T)
Reference rs28933068(C;C)
Significance Pathogenic
Disease Hypochondroplasia Thanatophoric dysplasia type 1
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia Thanatophoric dysplasia type 1
Reversed 0
HGVS NC_000004.11:g.1807371C>A; NC_000004.11:g.1807371C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017740.28, RCV000017771.24, RCV000017741.28,