rs1057519076

Orientation

minus

Stabilized

minus

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

Make rs1057519076(A;A)

Make rs1057519076(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

43769805

Gene

KCNN4

is a	snp
is	mentioned by
dbSNP	rs1057519076
dbSNP (classic)	rs1057519076
ClinGen	rs1057519076
ebi	rs1057519076
HLI	rs1057519076
Exac	rs1057519076
Gnomad	rs1057519076
Varsome	rs1057519076
LitVar	rs1057519076
Map	rs1057519076
PheGenI	rs1057519076
Biobank	rs1057519076
1000 genomes	rs1057519076
hgdp	rs1057519076
ensembl	rs1057519076
geneview	rs1057519076
scholar	rs1057519076
google	rs1057519076
pharmgkb	rs1057519076
gwascentral	rs1057519076
openSNP	rs1057519076
23andMe	rs1057519076
SNPshot	rs1057519076
SNPdbe	rs1057519076
MSV3d	rs1057519076
GWAS Ctlg	rs1057519076

Max Magnitude

0

ClinVar
Risk	rs1057519076(A;A)
Alt	rs1057519076(A;A)
Reference	Rs1057519076(G;G)
Significance	Pathogenic
Disease	Dehydrated hereditary stomatocytosis 2
Variation	info
Gene	KCNN4
CLNDBN	Dehydrated hereditary stomatocytosis 2
Reversed	1
HGVS	NC_000019.9:g.44273957C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412590.1,