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rs5036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs5036(A;G)
Make rs5036(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position44261577
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs5036
ebirs5036
HLIrs5036
Exacrs5036
Varsomers5036
Maprs5036
PheGenIrs5036
hapmaprs5036
1000 genomesrs5036
hgdprs5036
ensemblrs5036
gopubmedrs5036
geneviewrs5036
scholarrs5036
googlers5036
pharmgkbrs5036
gwascentralrs5036
openSNPrs5036
23andMers5036
23andMe allrs5036
SNP Nexus

SNPshotrs5036
SNPdbers5036
MSV3drs5036
GWAS Ctlgrs5036
GMAF0.06703
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM109270
DescBAND 3 MEMPHIS
Variant0001
Relatedalso
Neighborrs28929480
Distance861


ClinVar
Risk rs5036(G;G)
Alt rs5036(G;G)
Reference rs5036(A;A)
Significance Pathogenic
Disease Band 3 memphis
Variation info
Gene SLC4A1
CLNDBN Band 3 memphis
Reversed 1
HGVS NC_000017.10:g.42338945T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019328.30,



GET Evidence
SLC4A1-K56E
aa_change Lys56Glu
aa_change_short K56E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0495445
summary