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rs796065048

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796065048(A;C)
Make rs796065048(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position238848439
GeneLOC100287387, TWIST2
is asnp
is mentioned by
dbSNPrs796065048
ebirs796065048
HLIrs796065048
Exacrs796065048
Varsomers796065048
Maprs796065048
PheGenIrs796065048
hapmaprs796065048
1000 genomesrs796065048
hgdprs796065048
ensemblrs796065048
gopubmedrs796065048
geneviewrs796065048
scholarrs796065048
googlers796065048
pharmgkbrs796065048
gwascentralrs796065048
openSNPrs796065048
23andMers796065048
23andMe allrs796065048
SNP Nexus

SNPshotrs796065048
SNPdbers796065048
MSV3drs796065048
GWAS Ctlgrs796065048
Max Magnitude0
ClinVar
Risk rs796065048(C;C)
Alt rs796065048(C;C)
Reference rs796065048(A;A)
Significance Pathogenic
Disease Barber-Say syndrome
Variation info
Gene LOC100287387 TWIST2
CLNDBN Barber-Say syndrome
Reversed 0
HGVS NC_000002.11:g.239757080A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190338.2,