rs121908332

Orientation

minus

Stabilized

minus

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

Make rs121908332(A;A)

Make rs121908332(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

139618677

Gene

KCNK9

is a	snp
is	mentioned by
dbSNP	rs121908332
dbSNP (classic)	rs121908332
ClinGen	rs121908332
ebi	rs121908332
HLI	rs121908332
Exac	rs121908332
Gnomad	rs121908332
Varsome	rs121908332
LitVar	rs121908332
Map	rs121908332
PheGenI	rs121908332
Biobank	rs121908332
1000 genomes	rs121908332
hgdp	rs121908332
ensembl	rs121908332
geneview	rs121908332
scholar	rs121908332
google	rs121908332
pharmgkb	rs121908332
gwascentral	rs121908332
openSNP	rs121908332
23andMe	rs121908332
SNPshot	rs121908332
SNPdbe	rs121908332
MSV3d	rs121908332
GWAS Ctlg	rs121908332

Max Magnitude

0

OMIM	605874
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908332(A;A) rs121908332(C;C)
Alt	rs121908332(A;A) rs121908332(C;C)
Reference	Rs121908332(G;G)
Significance	Pathogenic
Disease	Birk Barel mental retardation dysmorphism syndrome not provided
Variation	info
Gene	KCNK9
CLNDBN	Birk Barel mental retardation dysmorphism syndrome not provided
Reversed	1
HGVS	NC_000008.10:g.140630920C>G; NC_000008.10:g.140630920C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000449636.1, RCV000005007.2, RCV000203121.1,