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rs1800974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 0 common in complete genomics
(C;T) 0
(G;G) 0 common in clinvar


Make rs1800974(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position55695573
GeneITGA7
is asnp
is mentioned by
dbSNPrs1800974
ebirs1800974
HLIrs1800974
Exacrs1800974
Varsomers1800974
Maprs1800974
PheGenIrs1800974
hapmaprs1800974
1000 genomesrs1800974
hgdprs1800974
ensemblrs1800974
gopubmedrs1800974
geneviewrs1800974
scholarrs1800974
googlers1800974
pharmgkbrs1800974
gwascentralrs1800974
openSNPrs1800974
23andMers1800974
23andMe allrs1800974
SNP Nexus

SNPshotrs1800974
SNPdbers1800974
MSV3drs1800974
GWAS Ctlgrs1800974
GMAF0.4118
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ITGA7
allele T
frequency 0.475
sift TOLERATED
HuRef 1103649448231
Disease Association Defects in ITGA7 are associated with a form of congenital myopathy; a group of heterogeneous muscle disorders which are thought to result from abnormal muscle development. Muscle weakness is either non-progressive or slowly progressive and apparent from birth or early infancy.



GET Evidence
ITGA7-R655H
aa_change Arg655His
aa_change_short R655H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.453151
summary



ClinVar
Risk rs1800974(A;A)
Alt rs1800974(A;A)
Reference rs1800974(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ITGA7
CLNDBN not specified
Reversed 1
HGVS NC_000012.11:g.56089357C>T
CLNSRC HGMD
CLNACC RCV000079979.5,