Have questions? Visit https://www.reddit.com/r/SNPedia

rs75790268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6.6 Achondroplasia/dwarfism
(C;C) 0 common in clinvar


Make rs75790268(A;A)
ReferenceGRCh38 38.1/142
Chromosome4
Position1804377
GeneFGFR3
is asnp
is mentioned by
dbSNPrs75790268
ebirs75790268
HLIrs75790268
Exacrs75790268
Varsomers75790268
Maprs75790268
PheGenIrs75790268
hapmaprs75790268
1000 genomesrs75790268
hgdprs75790268
ensemblrs75790268
gopubmedrs75790268
geneviewrs75790268
scholarrs75790268
googlers75790268
pharmgkbrs75790268
gwascentralrs75790268
openSNPrs75790268
23andMers75790268
23andMe allrs75790268
SNP Nexus

SNPshotrs75790268
SNPdbers75790268
MSV3drs75790268
GWAS Ctlgrs75790268
Merged fromRs121913097
Max Magnitude6.6

rs75790268, also known as Gly375Cys or G375C, is a mutation in the FGFR3 gene on chromosome 4.

Acting in an autosomal dominant manner, the rs75790268(A) allele, in dbSNP orientation, is considered to cause achondroplasia; see also OMIM 134934.0003

Note that 23andMe refers to this SNP as i5053815, i5001280 and i6010281.

OMIM134934
Desc
Variant0003
Relatedalso
ClinVar
Risk rs75790268(A;A)
Alt rs75790268(A;A)
Reference rs75790268(C;C)
Significance Pathogenic
Disease Achondroplasia
Variation info
Gene FGFR3
CLNDBN Achondroplasia
Reversed 1
HGVS NC_000004.11:g.1806104G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017727.28,