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rs796065049

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796065049(A;A)
Make rs796065049(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position238848438
GeneLOC100287387, TWIST2
is asnp
is mentioned by
dbSNPrs796065049
ebirs796065049
HLIrs796065049
Exacrs796065049
Varsomers796065049
Maprs796065049
PheGenIrs796065049
hapmaprs796065049
1000 genomesrs796065049
hgdprs796065049
ensemblrs796065049
gopubmedrs796065049
geneviewrs796065049
scholarrs796065049
googlers796065049
pharmgkbrs796065049
gwascentralrs796065049
openSNPrs796065049
23andMers796065049
23andMe allrs796065049
SNP Nexus

SNPshotrs796065049
SNPdbers796065049
MSV3drs796065049
GWAS Ctlgrs796065049
Max Magnitude0
ClinVar
Risk rs796065049(A,C;A,C)
Alt rs796065049(A,C;A,C)
Reference rs796065049(G;G)
Significance Pathogenic
Disease Ablepharon macrostomia syndrome Barber-Say syndrome
Variation info
Gene LOC100287387 TWIST2
CLNDBN Ablepharon macrostomia syndrome Barber-Say syndrome
Reversed 0
HGVS NC_000002.11:g.239757079G>A; NC_000002.11:g.239757079G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190339.2, RCV000190340.2,