rs386833445

Orientation

minus

Stabilized

minus

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

Make rs386833445(GATGCC;GATGCC)

Make rs386833445(GATGCC;TTCGGCATCGCAATGGTT)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107783277

Gene

SLC26A3

is a	snp
is	mentioned by
dbSNP	rs386833445
dbSNP (classic)	rs386833445
ClinGen	rs386833445
ebi	rs386833445
HLI	rs386833445
Exac	rs386833445
Gnomad	rs386833445
Varsome	rs386833445
LitVar	rs386833445
Map	rs386833445
PheGenI	rs386833445
Biobank	rs386833445
1000 genomes	rs386833445
hgdp	rs386833445
ensembl	rs386833445
geneview	rs386833445
scholar	rs386833445
google	rs386833445
pharmgkb	rs386833445
gwascentral	rs386833445
openSNP	rs386833445
23andMe	rs386833445
SNPshot	rs386833445
SNPdbe	rs386833445
MSV3d	rs386833445
GWAS Ctlg	rs386833445

Max Magnitude

0

ClinVar
Risk	rs386833445(GATGCC;GATGCC)
Alt	rs386833445(GATGCC;GATGCC)
Reference	Rs386833445(TTCGGCATCGCAATGGTT;TTCGGCATCGCAATGGTT)
Significance	Probable-Pathogenic
Disease	Congenital secretory diarrhea
Variation	info
Gene	SLC26A3
CLNDBN	Congenital secretory diarrhea, chloride type
Reversed	1
HGVS	NC_000007.13:g.107423722_107423739del18insGGCATC
CLNSRC	ClinVar
CLNACC	RCV000049372.1,

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