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rs1552311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1552311(C;T)
Make rs1552311(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48288516
GeneSLC12A1
is asnp
is mentioned by
dbSNPrs1552311
ebirs1552311
HLIrs1552311
Exacrs1552311
Varsomers1552311
Maprs1552311
PheGenIrs1552311
hapmaprs1552311
1000 genomesrs1552311
hgdprs1552311
ensemblrs1552311
gopubmedrs1552311
geneviewrs1552311
scholarrs1552311
googlers1552311
pharmgkbrs1552311
gwascentralrs1552311
openSNPrs1552311
23andMers1552311
23andMe allrs1552311
SNP Nexus

SNPshotrs1552311
SNPdbers1552311
MSV3drs1552311
GWAS Ctlgrs1552311
GMAF0.001377
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene SLC12A1
allele C
frequency 1
sift TOLERATED
HuRef 1103645604618
Disease Association Defects in SLC12A1 are the cause of antenatal Bartter syndrome type 1 (BS type 1) (MIM:601678). BS type 1 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this disease is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.



GET Evidence
SLC12A1-V958A
aa_change Val958Ala
aa_change_short V958A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.997561
summary