Have questions? Visit https://www.reddit.com/r/SNPedia

rs201992075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201992075(C;T)
Make rs201992075(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position6581131
GeneCHD4, SCARNA11
is asnp
is mentioned by
dbSNPrs201992075
dbSNP (classic)rs201992075
ClinGenrs201992075
ebirs201992075
HLIrs201992075
Exacrs201992075
Gnomadrs201992075
Varsomers201992075
LitVarrs201992075
Maprs201992075
PheGenIrs201992075
Biobankrs201992075
1000 genomesrs201992075
hgdprs201992075
ensemblrs201992075
geneviewrs201992075
scholarrs201992075
googlers201992075
pharmgkbrs201992075
gwascentralrs201992075
openSNPrs201992075
23andMers201992075
SNPshotrs201992075
SNPdbers201992075
MSV3drs201992075
GWAS Ctlgrs201992075
Max Magnitude0
ClinVar
Risk rs201992075(T;T)
Alt rs201992075(T;T)
Reference Rs201992075(C;C)
Significance Pathogenic
Disease Sifrim-Hitz-Weiss syndrome
Variation info
Gene SCARNA11 CHD4
CLNDBN Sifrim-Hitz-Weiss syndrome
Reversed 0
HGVS NC_000012.11:g.6690297C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000257639.1,