rs372000714

Orientation

plus

Stabilized

plus

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

Make rs372000714(A;A)

Make rs372000714(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

68906120

Gene

IGHMBP2

is a	snp
is	mentioned by
dbSNP	rs372000714
dbSNP (classic)	rs372000714
ClinGen	rs372000714
ebi	rs372000714
HLI	rs372000714
Exac	rs372000714
Gnomad	rs372000714
Varsome	rs372000714
LitVar	rs372000714
Map	rs372000714
PheGenI	rs372000714
Biobank	rs372000714
1000 genomes	rs372000714
hgdp	rs372000714
ensembl	rs372000714
geneview	rs372000714
scholar	rs372000714
google	rs372000714
pharmgkb	rs372000714
gwascentral	rs372000714
openSNP	rs372000714
23andMe	rs372000714
SNPshot	rs372000714
SNPdbe	rs372000714
MSV3d	rs372000714
GWAS Ctlg	rs372000714

Max Magnitude

0

ClinVar
Risk	rs372000714(A;A)
Alt	rs372000714(A;A)
Reference	Rs372000714(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation	info
Gene	IGHMBP2
CLNDBN	Charcot-Marie-Tooth disease, axonal, type 2S Charcot-Marie-Tooth disease not provided
Reversed	0
HGVS	NC_000011.9:g.68673588T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149574.7, RCV000192258.1, RCV000255598.1,