Have questions? Visit https://www.reddit.com/r/SNPedia

rs77173848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs77173848(A;G)
Make rs77173848(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position41797646
GeneANK1, LOC105379392
is asnp
is mentioned by
dbSNPrs77173848
dbSNP (old)rs77173848
ClinGenrs77173848
ebirs77173848
HLIrs77173848
Exacrs77173848
Gnomadrs77173848
Varsomers77173848
Maprs77173848
PheGenIrs77173848
Biobankrs77173848
1000 genomesrs77173848
hgdprs77173848
ensemblrs77173848
gopubmedrs77173848
geneviewrs77173848
scholarrs77173848
googlers77173848
pharmgkbrs77173848
gwascentralrs77173848
openSNPrs77173848
23andMers77173848
23andMe allrs77173848
SNP Nexus

SNPshotrs77173848
SNPdbers77173848
MSV3drs77173848
GWAS Ctlgrs77173848
Max Magnitude0
[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs77173848(G;G)
Alt rs77173848(G;G)
Reference Rs77173848(A;A)
Significance Pathogenic
Disease Spherocytosis
Variation info
Gene ANK1
CLNDBN Spherocytosis, type 1, autosomal recessive
Reversed 0
HGVS NC_000008.10:g.41655164A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000536.3,