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rs398122875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398122875(-;C)
Make rs398122875(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position13078616
GeneNFIX
is asnp
is mentioned by
dbSNPrs398122875
dbSNP (classic)rs398122875
ClinGenrs398122875
ebirs398122875
HLIrs398122875
Exacrs398122875
Gnomadrs398122875
Varsomers398122875
LitVarrs398122875
Maprs398122875
PheGenIrs398122875
Biobankrs398122875
1000 genomesrs398122875
hgdprs398122875
ensemblrs398122875
geneviewrs398122875
scholarrs398122875
googlers398122875
pharmgkbrs398122875
gwascentralrs398122875
openSNPrs398122875
23andMers398122875
SNPshotrs398122875
SNPdbers398122875
MSV3drs398122875
GWAS Ctlgrs398122875
Max Magnitude0
ClinVar
Risk rs398122875(C;C)
Alt rs398122875(C;C)
Reference Rs398122875(-;-)
Significance Pathogenic
Disease Marshall-Smith syndrome
Variation info
Gene NFIX
CLNDBN Marshall-Smith syndrome
Reversed 0
HGVS NC_000019.9:g.13189430dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000030643.21,