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rs35948326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1 uncertain significance; may be associated with spherocytosis
(A;C) 1 uncertain significance; may be associated with spherocytosis
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position158654738
GeneSPTA1
is asnp
is mentioned by
dbSNPrs35948326
ebirs35948326
HLIrs35948326
Exacrs35948326
Varsomers35948326
Maprs35948326
PheGenIrs35948326
hapmaprs35948326
1000 genomesrs35948326
hgdprs35948326
ensemblrs35948326
gopubmedrs35948326
geneviewrs35948326
scholarrs35948326
googlers35948326
pharmgkbrs35948326
gwascentralrs35948326
openSNPrs35948326
23andMers35948326
23andMe allrs35948326
SNP Nexus

SNPshotrs35948326
SNPdbers35948326
MSV3drs35948326
GWAS Ctlgrs35948326
GMAF0.01653
Max Magnitude1

rs35948326, also known as c.2909C>A, p.Ala970Asp, A970D and alpha-IIa, represents a variant in the SPTA1 gene on chromosome 1.

Although reported as associated with autosomal recessive spherocytosis, the rs35948326(A) allele (as reported in dbSNP orientation) may actually be more of a proxy for a truly defective variant that is co-inherited as a result of linkage. That variant is known as alpha-LEPRA.

OMIM182860
Desc
Variant0009
Relatedalso


ClinVar
Risk rs35948326(A;A)
Alt rs35948326(A;A)
Reference rs35948326(C;C)
Significance Pathogenic
Disease Spherocytosis
Variation info
Gene SPTA1
CLNDBN Spherocytosis, type 3, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.158624528G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013699.24,



GET Evidence
SPTA1-A970D
aa_change Ala970Asp
aa_change_short A970D
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0373134
summary This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.