rs137854493

Orientation

minus

Stabilized

minus

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

Make rs137854493(C;T)

Make rs137854493(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

68299067

Gene

OPHN1

is a	snp
is	mentioned by
dbSNP	rs137854493
dbSNP (classic)	rs137854493
ClinGen	rs137854493
ebi	rs137854493
HLI	rs137854493
Exac	rs137854493
Gnomad	rs137854493
Varsome	rs137854493
LitVar	rs137854493
Map	rs137854493
PheGenI	rs137854493
Biobank	rs137854493
1000 genomes	rs137854493
hgdp	rs137854493
ensembl	rs137854493
geneview	rs137854493
scholar	rs137854493
google	rs137854493
pharmgkb	rs137854493
gwascentral	rs137854493
openSNP	rs137854493
23andMe	rs137854493
SNPshot	rs137854493
SNPdbe	rs137854493
MSV3d	rs137854493
GWAS Ctlg	rs137854493

Max Magnitude

0

OMIM	300127
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137854493(T;T)
Alt	rs137854493(T;T)
Reference	Rs137854493(C;C)
Significance	Pathogenic
Disease	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
Variation	info
Gene	OPHN1
CLNDBN	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
Reversed	1
HGVS	NC_000023.10:g.67518909G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012335.25,