rs72549407

Orientation

minus

Stabilized

minus

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

Make rs72549407(C;C)

Make rs72549407(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

22978444

Gene

FAM126A

is a	snp
is	mentioned by
dbSNP	rs72549407
dbSNP (classic)	rs72549407
ClinGen	rs72549407
ebi	rs72549407
HLI	rs72549407
Exac	rs72549407
Gnomad	rs72549407
Varsome	rs72549407
LitVar	rs72549407
Map	rs72549407
PheGenI	rs72549407
Biobank	rs72549407
1000 genomes	rs72549407
hgdp	rs72549407
ensembl	rs72549407
geneview	rs72549407
scholar	rs72549407
google	rs72549407
pharmgkb	rs72549407
gwascentral	rs72549407
openSNP	rs72549407
23andMe	rs72549407
SNPshot	rs72549407
SNPdbe	rs72549407
MSV3d	rs72549407
GWAS Ctlg	rs72549407

Max Magnitude

0

OMIM	610531
Desc
Variant	0003
Related	also

ClinVar
Risk	rs72549407(C;C) rs72549407(G;G)
Alt	rs72549407(C;C) rs72549407(G;G)
Reference	Rs72549407(T;T)
Significance	Pathogenic
Disease	Hypomyelination and Congenital Cataract
Variation	info
Gene	FAM126A
CLNDBN	Hypomyelination and Congenital Cataract
Reversed	1
HGVS	NC_000007.13:g.23018063A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001275.4,

[PMID 16951682] Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.