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rs876657378

From SNPedia

Orientationplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs876657378(-;-)
Make rs876657378(-;AAG)
Make rs876657378(AAG;AAG)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position10996255
GeneSMARCA4
is asnp
is mentioned by
dbSNPrs876657378
ebirs876657378
HLIrs876657378
Exacrs876657378
Varsomers876657378
Maprs876657378
PheGenIrs876657378
hapmaprs876657378
1000 genomesrs876657378
hgdprs876657378
ensemblrs876657378
gopubmedrs876657378
geneviewrs876657378
scholarrs876657378
googlers876657378
pharmgkbrs876657378
gwascentralrs876657378
openSNPrs876657378
23andMers876657378
23andMe allrs876657378
SNP Nexus

SNPshotrs876657378
SNPdbers876657378
MSV3drs876657378
GWAS Ctlgrs876657378
Max Magnitude0
ClinVar
Risk rs876657378(;)
Alt rs876657378(;)
Reference rs876657378(AGA;AGA)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SMARCA4
CLNDBN Mental retardation, autosomal dominant 16
Reversed 0
HGVS NC_000019.9:g.11106931_11106933delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023284.3,