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rs80053154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80053154(C;C)
Make rs80053154(C;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position1805636
GeneFGFR3
is asnp
is mentioned by
dbSNPrs80053154
ebirs80053154
HLIrs80053154
Exacrs80053154
Varsomers80053154
Maprs80053154
PheGenIrs80053154
hapmaprs80053154
1000 genomesrs80053154
hgdprs80053154
ensemblrs80053154
gopubmedrs80053154
geneviewrs80053154
scholarrs80053154
googlers80053154
pharmgkbrs80053154
gwascentralrs80053154
openSNPrs80053154
23andMers80053154
23andMe allrs80053154
SNP Nexus

SNPshotrs80053154
SNPdbers80053154
MSV3drs80053154
GWAS Ctlgrs80053154
Merged fromRs121913108
Max Magnitude0
OMIM134934
Desc
Variant0019
Relatedalso
ClinVar
Risk rs80053154(C;C)
Alt rs80053154(C;C)
Reference rs80053154(T;T)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 1
HGVS NC_000004.11:g.1807363A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017754.28,