rs387907034

Orientation

plus

Stabilized

plus

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

Make rs387907034(C;C)

Make rs387907034(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

104701675

Gene

INF2

is a	snp
is	mentioned by
dbSNP	rs387907034
dbSNP (classic)	rs387907034
ClinGen	rs387907034
ebi	rs387907034
HLI	rs387907034
Exac	rs387907034
Gnomad	rs387907034
Varsome	rs387907034
LitVar	rs387907034
Map	rs387907034
PheGenI	rs387907034
Biobank	rs387907034
1000 genomes	rs387907034
hgdp	rs387907034
ensembl	rs387907034
geneview	rs387907034
scholar	rs387907034
google	rs387907034
pharmgkb	rs387907034
gwascentral	rs387907034
openSNP	rs387907034
23andMe	rs387907034
SNPshot	rs387907034
SNPdbe	rs387907034
MSV3d	rs387907034
GWAS Ctlg	rs387907034

Max Magnitude

0

ClinVar
Risk	rs387907034(C;C)
Alt	rs387907034(C;C)
Reference	Rs387907034(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	INF2
CLNDBN	Charcot-Marie-Tooth disease, dominant intermediate E
Reversed	0
HGVS	NC_000014.8:g.105168012T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023849.2,