rs72549406

Orientation

minus

Stabilized

minus

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

Make rs72549406(C;C)

Make rs72549406(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

22977340

Gene

FAM126A

is a	snp
is	mentioned by
dbSNP	rs72549406
dbSNP (classic)	rs72549406
ClinGen	rs72549406
ebi	rs72549406
HLI	rs72549406
Exac	rs72549406
Gnomad	rs72549406
Varsome	rs72549406
LitVar	rs72549406
Map	rs72549406
PheGenI	rs72549406
Biobank	rs72549406
1000 genomes	rs72549406
hgdp	rs72549406
ensembl	rs72549406
geneview	rs72549406
scholar	rs72549406
google	rs72549406
pharmgkb	rs72549406
gwascentral	rs72549406
openSNP	rs72549406
23andMe	rs72549406
SNPshot	rs72549406
SNPdbe	rs72549406
MSV3d	rs72549406
GWAS Ctlg	rs72549406

Max Magnitude

0

OMIM	610531
Desc
Variant	0002
Related	also

ClinVar
Risk	rs72549406(C;C) rs72549406(T;T)
Alt	rs72549406(C;C) rs72549406(T;T)
Reference	Rs72549406(G;G)
Significance	Pathogenic
Disease	Hypomyelination and Congenital Cataract
Variation	info
Gene	FAM126A
CLNDBN	Hypomyelination and Congenital Cataract
Reversed	1
HGVS	NC_000007.13:g.23016959C>A; NC_000007.13:g.23016959C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001274.4, RCV000144432.1,

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