rs199422238

Orientation

minus

Stabilized

minus

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

Make rs199422238(C;T)

Make rs199422238(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

53198836

Gene	KDM5C, MIR6894

is a	snp
is	mentioned by
dbSNP	rs199422238
dbSNP (classic)	rs199422238
ClinGen	rs199422238
ebi	rs199422238
HLI	rs199422238
Exac	rs199422238
Gnomad	rs199422238
Varsome	rs199422238
LitVar	rs199422238
Map	rs199422238
PheGenI	rs199422238
Biobank	rs199422238
1000 genomes	rs199422238
hgdp	rs199422238
ensembl	rs199422238
geneview	rs199422238
scholar	rs199422238
google	rs199422238
pharmgkb	rs199422238
gwascentral	rs199422238
openSNP	rs199422238
23andMe	rs199422238
SNPshot	rs199422238
SNPdbe	rs199422238
MSV3d	rs199422238
GWAS Ctlg	rs199422238

Max Magnitude

0

ClinVar
Risk	rs199422238(T;T)
Alt	rs199422238(T;T)
Reference	Rs199422238(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	KDM5C MIR6894
CLNDBN	Mental retardation, syndromic, Claes-Jensen type, X-linked
Reversed	1
HGVS	NC_000023.10:g.53228018G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010431.3,