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rs121909645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909645(A;A)
Make rs121909645(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position38424696
GeneFGFR1
is asnp
is mentioned by
dbSNPrs121909645
dbSNP (classic)rs121909645
ClinGenrs121909645
ebirs121909645
HLIrs121909645
Exacrs121909645
Gnomadrs121909645
Varsomers121909645
LitVarrs121909645
Maprs121909645
PheGenIrs121909645
Biobankrs121909645
1000 genomesrs121909645
hgdprs121909645
ensemblrs121909645
geneviewrs121909645
scholarrs121909645
googlers121909645
pharmgkbrs121909645
gwascentralrs121909645
openSNPrs121909645
23andMers121909645
SNPshotrs121909645
SNPdbers121909645
MSV3drs121909645
GWAS Ctlgrs121909645
Max Magnitude0
OMIM136350
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121909645(A;A) rs121909645(C;C)
Alt rs121909645(A;A) rs121909645(C;C)
Reference Rs121909645(G;G)
Significance Other
Disease Lobar holoprosencephaly Kallmann syndrome 2
Variation info
Gene FGFR1
CLNDBN Lobar holoprosencephaly Kallmann syndrome 2
Reversed 1
HGVS NC_000008.10:g.38282214C>G; NC_000008.10:g.38282214C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000223933.1, RCV000030940.3,