rs63749871

Orientation

plus

Stabilized

plus

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

Make rs63749871(C;C)

Make rs63749871(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

32602217

Gene

FGD4

is a	snp
is	mentioned by
dbSNP	rs63749871
dbSNP (classic)	rs63749871
ClinGen	rs63749871
ebi	rs63749871
HLI	rs63749871
Exac	rs63749871
Gnomad	rs63749871
Varsome	rs63749871
LitVar	rs63749871
Map	rs63749871
PheGenI	rs63749871
Biobank	rs63749871
1000 genomes	rs63749871
hgdp	rs63749871
ensembl	rs63749871
geneview	rs63749871
scholar	rs63749871
google	rs63749871
pharmgkb	rs63749871
gwascentral	rs63749871
openSNP	rs63749871
23andMe	rs63749871
SNPshot	rs63749871
SNPdbe	rs63749871
MSV3d	rs63749871
GWAS Ctlg	rs63749871

Max Magnitude

0

OMIM	611104
Desc
Variant	0005
Related	also

ClinVar
Risk	rs63749871(C;C) rs63749871(G;G)
Alt	rs63749871(C;C) rs63749871(G;G)
Reference	Rs63749871(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	FGD4
CLNDBN	Charcot-Marie-Tooth disease, type 4H
Reversed	0
HGVS	NC_000012.11:g.32755151T>C; NC_000012.11:g.32755151T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001070.2, RCV000032001.1,

[PMID 17564972] Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.