rs121908683

Orientation

minus

Stabilized

minus

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

Make rs121908683(C;T)

Make rs121908683(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

38115667

Gene

PLA2G6

is a	snp
is	mentioned by
dbSNP	rs121908683
dbSNP (classic)	rs121908683
ClinGen	rs121908683
ebi	rs121908683
HLI	rs121908683
Exac	rs121908683
Gnomad	rs121908683
Varsome	rs121908683
LitVar	rs121908683
Map	rs121908683
PheGenI	rs121908683
Biobank	rs121908683
1000 genomes	rs121908683
hgdp	rs121908683
ensembl	rs121908683
geneview	rs121908683
scholar	rs121908683
google	rs121908683
pharmgkb	rs121908683
gwascentral	rs121908683
openSNP	rs121908683
23andMe	rs121908683
SNPshot	rs121908683
SNPdbe	rs121908683
MSV3d	rs121908683
GWAS Ctlg	rs121908683

Max Magnitude

0

OMIM	603604
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908683(T;T)
Alt	rs121908683(T;T)
Reference	Rs121908683(C;C)
Significance	Pathogenic
Disease	Karak syndrome
Variation	info
Gene	PLA2G6
CLNDBN	Karak syndrome
Reversed	1
HGVS	NC_000022.10:g.38511674G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006576.2,