rs121912672

Orientation

plus

Stabilized

plus

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

Make rs121912672(C;T)

Make rs121912672(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

232540072

Gene

CHRNG

is a	snp
is	mentioned by
dbSNP	rs121912672
dbSNP (classic)	rs121912672
ClinGen	rs121912672
ebi	rs121912672
HLI	rs121912672
Exac	rs121912672
Gnomad	rs121912672
Varsome	rs121912672
LitVar	rs121912672
Map	rs121912672
PheGenI	rs121912672
Biobank	rs121912672
1000 genomes	rs121912672
hgdp	rs121912672
ensembl	rs121912672
geneview	rs121912672
scholar	rs121912672
google	rs121912672
pharmgkb	rs121912672
gwascentral	rs121912672
openSNP	rs121912672
23andMe	rs121912672
SNPshot	rs121912672
SNPdbe	rs121912672
MSV3d	rs121912672
GWAS Ctlg	rs121912672

Max Magnitude

0

OMIM	100730
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912672(T;T)
Alt	rs121912672(T;T)
Reference	Rs121912672(C;C)
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.233404782C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020009.29,