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rs398122871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTCT;CCTCT) 0 common in clinvar
(CTCTC;CTCTC) 0 common in clinvar
Make rs398122871(-;-)
Make rs398122871(-;CTCTC)
ReferenceGRCh38 38.1/141
Chromosome19
Position13078665
GeneNFIX
is asnp
is mentioned by
dbSNPrs398122871
ebirs398122871
HLIrs398122871
Exacrs398122871
Varsomers398122871
Maprs398122871
PheGenIrs398122871
hapmaprs398122871
1000 genomesrs398122871
hgdprs398122871
ensemblrs398122871
gopubmedrs398122871
geneviewrs398122871
scholarrs398122871
googlers398122871
pharmgkbrs398122871
gwascentralrs398122871
openSNPrs398122871
23andMers398122871
23andMe allrs398122871
SNP Nexus

SNPshotrs398122871
SNPdbers398122871
MSV3drs398122871
GWAS Ctlgrs398122871
Max Magnitude0
ClinVar
Risk rs398122871(;)
Alt rs398122871(;)
Reference rs398122871(CCTCT;CCTCT)
Significance Pathogenic
Disease Marshall-Smith syndrome
Variation info
Gene NFIX
CLNDBN Marshall-Smith syndrome
Reversed 0
HGVS NC_000019.9:g.13189479_13189483delCTCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000030639.25,