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rs869320750

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869320750(-;-)
Make rs869320750(-;CAGCGC)
Make rs869320750(CAGCGC;CAGCGC)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position238848449
GeneLOC100287387, TWIST2
is asnp
is mentioned by
dbSNPrs869320750
ebirs869320750
HLIrs869320750
Exacrs869320750
Varsomers869320750
Maprs869320750
PheGenIrs869320750
hapmaprs869320750
1000 genomesrs869320750
hgdprs869320750
ensemblrs869320750
gopubmedrs869320750
geneviewrs869320750
scholarrs869320750
googlers869320750
pharmgkbrs869320750
gwascentralrs869320750
openSNPrs869320750
23andMers869320750
23andMe allrs869320750
SNP Nexus

SNPshotrs869320750
SNPdbers869320750
MSV3drs869320750
GWAS Ctlgrs869320750
Max Magnitude0
ClinVar
Risk rs869320750(AGCGCC;AGCGCC)
Alt rs869320750(AGCGCC;AGCGCC)
Reference rs869320750(;)
Significance Pathogenic
Disease Barber-Say syndrome
Variation info
Gene LOC100287387 TWIST2
CLNDBN Barber-Say syndrome
Reversed 0
HGVS NC_000002.11:g.239757085_239757090dupCAGCGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000190341.2,