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rs267606808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606808(A;G)
Make rs267606808(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1805396
GeneFGFR3
is asnp
is mentioned by
dbSNPrs267606808
dbSNP (classic)rs267606808
ClinGenrs267606808
ebirs267606808
HLIrs267606808
Exacrs267606808
Gnomadrs267606808
Varsomers267606808
LitVarrs267606808
Maprs267606808
PheGenIrs267606808
Biobankrs267606808
1000 genomesrs267606808
hgdprs267606808
ensemblrs267606808
geneviewrs267606808
scholarrs267606808
googlers267606808
pharmgkbrs267606808
gwascentralrs267606808
openSNPrs267606808
23andMers267606808
SNPshotrs267606808
SNPdbers267606808
MSV3drs267606808
GWAS Ctlgrs267606808
Max Magnitude0
ClinVar
Risk rs267606808(G;G)
Alt rs267606808(G;G)
Reference Rs267606808(A;A)
Significance Pathogenic
Disease Thanatophoric dysplasia type 1
Variation info
Gene FGFR3
CLNDBN Thanatophoric dysplasia type 1
Reversed 0
HGVS NC_000004.11:g.1807123A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017771.24,