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rs137853319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853319(C;T)
Make rs137853319(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154359839
GeneFLNA
is asnp
is mentioned by
dbSNPrs137853319
dbSNP (classic)rs137853319
ClinGenrs137853319
ebirs137853319
HLIrs137853319
Exacrs137853319
Gnomadrs137853319
Varsomers137853319
LitVarrs137853319
Maprs137853319
PheGenIrs137853319
Biobankrs137853319
1000 genomesrs137853319
hgdprs137853319
ensemblrs137853319
geneviewrs137853319
scholarrs137853319
googlers137853319
pharmgkbrs137853319
gwascentralrs137853319
openSNPrs137853319
23andMers137853319
SNPshotrs137853319
SNPdbers137853319
MSV3drs137853319
GWAS Ctlgrs137853319
Max Magnitude0
OMIM300017
Desc
Variant0028
Relatedalso
ClinVar
Risk rs137853319(T;T)
Alt rs137853319(T;T)
Reference Rs137853319(C;C)
Significance Pathogenic
Disease FG syndrome 2
Variation info
Gene FLNA
CLNDBN FG syndrome 2
Reversed 1
HGVS NC_000023.10:g.153588207G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012541.24,