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rs121913107

From SNPedia

Merged intors77722678
Orientationminus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913107(A;C)
Make rs121913107(C;C)
ReferenceGRCh38 38.1/142
Chromosome4
Position1805643
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913107
ebirs121913107
HLIrs121913107
Exacrs121913107
Varsomers121913107
Maprs121913107
PheGenIrs121913107
hapmaprs121913107
1000 genomesrs121913107
hgdprs121913107
ensemblrs121913107
gopubmedrs121913107
geneviewrs121913107
scholarrs121913107
googlers121913107
pharmgkbrs121913107
gwascentralrs121913107
openSNPrs121913107
23andMers121913107
23andMe allrs121913107
SNP Nexus

SNPshotrs121913107
SNPdbers121913107
MSV3drs121913107
GWAS Ctlgrs121913107
StatusMerged into rs77722678
Max Magnitude0
OMIM134934
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121913107(C;C)
Alt rs121913107(C;C)
Reference rs121913107(A;A)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1807370A>C
CLNSRC OMIM Allelic Variant
CLNACC SCV000038031.1,