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rs774515747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs774515747(A;G)
Make rs774515747(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48226575
GeneLOC105370807, SLC12A1
is asnp
is mentioned by
dbSNPrs774515747
dbSNP (classic)rs774515747
ClinGenrs774515747
ebirs774515747
HLIrs774515747
Exacrs774515747
Gnomadrs774515747
Varsomers774515747
LitVarrs774515747
Maprs774515747
PheGenIrs774515747
Biobankrs774515747
1000 genomesrs774515747
hgdprs774515747
ensemblrs774515747
geneviewrs774515747
scholarrs774515747
googlers774515747
pharmgkbrs774515747
gwascentralrs774515747
openSNPrs774515747
23andMers774515747
23andMe allrs774515747
SNPshotrs774515747
SNPdbers774515747
MSV3drs774515747
GWAS Ctlgrs774515747
Max Magnitude0
ClinVar
Risk rs774515747(G;G) rs774515747(T;T)
Alt rs774515747(G;G) rs774515747(T;T)
Reference Rs774515747(A;A)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48518772A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009298.4,