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rs186214592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs186214592(G;T)
Make rs186214592(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154358500
GeneFLNA
is asnp
is mentioned by
dbSNPrs186214592
ebirs186214592
HLIrs186214592
Exacrs186214592
Varsomers186214592
Maprs186214592
PheGenIrs186214592
hapmaprs186214592
1000 genomesrs186214592
hgdprs186214592
ensemblrs186214592
gopubmedrs186214592
geneviewrs186214592
scholarrs186214592
googlers186214592
pharmgkbrs186214592
gwascentralrs186214592
openSNPrs186214592
23andMers186214592
23andMe allrs186214592
SNP Nexus

SNPshotrs186214592
SNPdbers186214592
MSV3drs186214592
GWAS Ctlgrs186214592
Max Magnitude0
ClinVar
Risk rs186214592(A,T;A,T)
Alt rs186214592(A,T;A,T)
Reference rs186214592(G;G)
Significance Pathogenic
Disease not provided Oto-palato-digital syndrome X-linked periventricular heterotopia
Variation info
Gene FLNA
CLNDBN not provided Oto-palato-digital syndrome, type I X-linked periventricular heterotopia
Reversed 0
HGVS NC_000023.10:g.153586868G>A
CLNSRC HGMD
CLNACC RCV000079699.3, RCV000176727.1, RCV000176728.1,