rs104894522

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6.1	Charcot-Marie-Tooth Disease, type 1

Make rs104894522(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

11553546

Gene

LITAF

is a	snp
is	mentioned by
dbSNP	rs104894522
dbSNP (classic)	rs104894522
ClinGen	rs104894522
ebi	rs104894522
HLI	rs104894522
Exac	rs104894522
Gnomad	rs104894522
Varsome	rs104894522
LitVar	rs104894522
Map	rs104894522
PheGenI	rs104894522
Biobank	rs104894522
1000 genomes	rs104894522
hgdp	rs104894522
ensembl	rs104894522
geneview	rs104894522
scholar	rs104894522
google	rs104894522
pharmgkb	rs104894522
gwascentral	rs104894522
openSNP	rs104894522
23andMe	rs104894522
SNPshot	rs104894522
SNPdbe	rs104894522
MSV3d	rs104894522
GWAS Ctlg	rs104894522

Max Magnitude

6.1

OMIM	603795
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894522(G;G)
Alt	rs104894522(G;G)
Reference	Rs104894522(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	LITAF
CLNDBN	Charcot-Marie-Tooth disease, type 1C
Reversed	1
HGVS	NC_000016.9:g.11647402G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006432.2,