rs28934611

Orientation

minus

Stabilized

minus

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

Make rs28934611(C;C)

Make rs28934611(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

10449495

Gene

MID1

is a	snp
is	mentioned by
dbSNP	rs28934611
dbSNP (classic)	rs28934611
ClinGen	rs28934611
ebi	rs28934611
HLI	rs28934611
Exac	rs28934611
Gnomad	rs28934611
Varsome	rs28934611
LitVar	rs28934611
Map	rs28934611
PheGenI	rs28934611
Biobank	rs28934611
1000 genomes	rs28934611
hgdp	rs28934611
ensembl	rs28934611
geneview	rs28934611
scholar	rs28934611
google	rs28934611
pharmgkb	rs28934611
gwascentral	rs28934611
openSNP	rs28934611
23andMe	rs28934611
SNPshot	rs28934611
SNPdbe	rs28934611
MSV3d	rs28934611
GWAS Ctlg	rs28934611

Max Magnitude

0

OMIM	300552
Desc	OPITZ SYNDROME, X-LINKED
Variant	0004
Related	also

ClinVar
Risk	rs28934611(C;C)
Alt	rs28934611(C;C)
Reference	Rs28934611(T;T)
Significance	Pathogenic
Disease	Opitz-Frias syndrome
Variation	info
Gene	MID1
CLNDBN	Opitz-Frias syndrome
Reversed	1
HGVS	NC_000023.10:g.10417535A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011555.7,