rs863223313

Orientation

plus

Stabilized

plus

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

Make rs863223313(-;AGGGTGCCG)

Make rs863223313(AGGGTGCCG;AGGGTGCCG)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

232540670

Gene

CHRNG

is a	snp
is	mentioned by
dbSNP	rs863223313
dbSNP (classic)	rs863223313
ClinGen	rs863223313
ebi	rs863223313
HLI	rs863223313
Exac	rs863223313
Gnomad	rs863223313
Varsome	rs863223313
LitVar	rs863223313
Map	rs863223313
PheGenI	rs863223313
Biobank	rs863223313
1000 genomes	rs863223313
hgdp	rs863223313
ensembl	rs863223313
geneview	rs863223313
scholar	rs863223313
google	rs863223313
pharmgkb	rs863223313
gwascentral	rs863223313
openSNP	rs863223313
23andMe	rs863223313
SNPshot	rs863223313
SNPdbe	rs863223313
MSV3d	rs863223313
GWAS Ctlg	rs863223313

Max Magnitude

0

ClinVar
Risk	rs863223313(GAGGGTGCC;GAGGGTGCC)
Alt	rs863223313(GAGGGTGCC;GAGGGTGCC)
Reference	Rs863223313(-;-)
Significance	Pathogenic
Disease	Multiple pterygium syndrome Escobar type
Variation	info
Gene	CHRNG
CLNDBN	Multiple pterygium syndrome Escobar type
Reversed	0
HGVS	NC_000002.11:g.233405372_233405380dupAGGGTGCCG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020005.29,