rs879253747

Orientation

plus

Stabilized

plus

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

Make rs879253747(C;T)

Make rs879253747(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

157167101

Gene

ARID1B

is a	snp
is	mentioned by
dbSNP	rs879253747
dbSNP (classic)	rs879253747
ClinGen	rs879253747
ebi	rs879253747
HLI	rs879253747
Exac	rs879253747
Gnomad	rs879253747
Varsome	rs879253747
LitVar	rs879253747
Map	rs879253747
PheGenI	rs879253747
Biobank	rs879253747
1000 genomes	rs879253747
hgdp	rs879253747
ensembl	rs879253747
geneview	rs879253747
scholar	rs879253747
google	rs879253747
pharmgkb	rs879253747
gwascentral	rs879253747
openSNP	rs879253747
23andMe	rs879253747
SNPshot	rs879253747
SNPdbe	rs879253747
MSV3d	rs879253747
GWAS Ctlg	rs879253747

Max Magnitude

0

ClinVar
Risk	rs879253747(T;T)
Alt	rs879253747(T;T)
Reference	Rs879253747(C;C)
Significance	Pathogenic
Disease	Absent speech Blepharophimosis Intellectual disability Long eyelashes Thick lower lip vermilion Thin upper lip vermilion
Variation	info
Gene	ARID1B
CLNDBN	Absent speech Blepharophimosis Intellectual disability, moderate Long eyelashes Thick lower lip vermilion Thin upper lip vermilion
Reversed	0
HGVS	NC_000006.11:g.157488235C>T
CLNSRC
CLNACC	RCV000234911.1,