rs118203981

Orientation

minus

Stabilized

minus

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

Make rs118203981(C;C)

Make rs118203981(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42738540

Gene

CLDN19

is a	snp
is	mentioned by
dbSNP	rs118203981
dbSNP (classic)	rs118203981
ClinGen	rs118203981
ebi	rs118203981
HLI	rs118203981
Exac	rs118203981
Gnomad	rs118203981
Varsome	rs118203981
LitVar	rs118203981
Map	rs118203981
PheGenI	rs118203981
Biobank	rs118203981
1000 genomes	rs118203981
hgdp	rs118203981
ensembl	rs118203981
geneview	rs118203981
scholar	rs118203981
google	rs118203981
pharmgkb	rs118203981
gwascentral	rs118203981
openSNP	rs118203981
23andMe	rs118203981
SNPshot	rs118203981
SNPdbe	rs118203981
MSV3d	rs118203981
GWAS Ctlg	rs118203981

Max Magnitude

0

OMIM	610036
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118203981(C;C) rs118203981(G;G)
Alt	rs118203981(C;C) rs118203981(G;G)
Reference	Rs118203981(T;T)
Significance	Pathogenic
Disease	Hypomagnesemia 5
Variation	info
Gene	CLDN19
CLNDBN	Hypomagnesemia 5, renal, with ocular involvement
Reversed	1
HGVS	NC_000001.10:g.43204211A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001428.2,