rs386833491

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	5.8	Congenital secretory diarrhea (predicted)
(-;GGT)	3	Carrier for a congenital secretory diarrhea mutation
(GGT;GGT)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

107786845

Gene

SLC26A3

is a	snp
is	mentioned by
dbSNP	rs386833491
dbSNP (classic)	rs386833491
ClinGen	rs386833491
ebi	rs386833491
HLI	rs386833491
Exac	rs386833491
Gnomad	rs386833491
Varsome	rs386833491
LitVar	rs386833491
Map	rs386833491
PheGenI	rs386833491
Biobank	rs386833491
1000 genomes	rs386833491
hgdp	rs386833491
ensembl	rs386833491
geneview	rs386833491
scholar	rs386833491
google	rs386833491
pharmgkb	rs386833491
gwascentral	rs386833491
openSNP	rs386833491
23andMe	rs386833491
SNPshot	rs386833491
SNPdbe	rs386833491
MSV3d	rs386833491
GWAS Ctlg	rs386833491

Merged from

Rs121913029

Max Magnitude

5.8

aka c.951_953delGGT (p.Val318del)

ClinVar
Risk	rs386833491(GTG;GTG) Rs386833491(-;-)
Alt	rs386833491(GTG;GTG) Rs386833491(-;-)
Reference	Rs386833491(GGT;GGT)
Significance	Pathogenic
Disease	Congenital secretory diarrhea
Variation	info
Gene	SLC26A3
CLNDBN	Congenital secretory diarrhea, chloride type
Reversed	1
HGVS	NC_000007.13:g.107427290_107427292delACC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018239.28,

[PMID 8896562] Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.

[PMID 21394828] Update on SLC26A3 mutations in congenital chloride diarrhea.