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rs78311289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs78311289(A;G)
Make rs78311289(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1806162
GeneFGFR3
is asnp
is mentioned by
dbSNPrs78311289
ebirs78311289
HLIrs78311289
Exacrs78311289
Varsomers78311289
Maprs78311289
PheGenIrs78311289
hapmaprs78311289
1000 genomesrs78311289
hgdprs78311289
ensemblrs78311289
gopubmedrs78311289
geneviewrs78311289
scholarrs78311289
googlers78311289
pharmgkbrs78311289
gwascentralrs78311289
openSNPrs78311289
23andMers78311289
23andMe allrs78311289
SNP Nexus

SNPshotrs78311289
SNPdbers78311289
MSV3drs78311289
GWAS Ctlgrs78311289
Max Magnitude0
OMIM134934
Desc
Variant0004
Relatedalso
ClinVar
Risk rs78311289(C,G;C,G)
Alt rs78311289(C,G;C,G)
Reference rs78311289(A;A)
Significance Pathogenic
Disease Hypochondroplasia Malignant tumor of urinary bladder Thanatophoric dysplasia Multiple myeloma Spermatocytic seminoma
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia Malignant tumor of urinary bladder Thanatophoric dysplasia, type 2 Multiple myeloma Spermatocytic seminoma
Reversed 0
HGVS NC_000004.11:g.1807889A>C; NC_000004.11:g.1807889A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017757.31, RCV000144153.3, RCV000017728.24, RCV000017729.5, RCV000017730.5,