rs869320750

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs869320750(-;CAGCGC)

Make rs869320750(CAGCGC;CAGCGC)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

238848449

Gene	LOC100287387, TWIST2

is a	snp
is	mentioned by
dbSNP	rs869320750
dbSNP (classic)	rs869320750
ClinGen	rs869320750
ebi	rs869320750
HLI	rs869320750
Exac	rs869320750
Gnomad	rs869320750
Varsome	rs869320750
LitVar	rs869320750
Map	rs869320750
PheGenI	rs869320750
Biobank	rs869320750
1000 genomes	rs869320750
hgdp	rs869320750
ensembl	rs869320750
geneview	rs869320750
scholar	rs869320750
google	rs869320750
pharmgkb	rs869320750
gwascentral	rs869320750
openSNP	rs869320750
23andMe	rs869320750
SNPshot	rs869320750
SNPdbe	rs869320750
MSV3d	rs869320750
GWAS Ctlg	rs869320750

Max Magnitude

0

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,