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rs1154233

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1154233(A;A)
Make rs1154233(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23931125
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1154233
ebirs1154233
HLIrs1154233
Exacrs1154233
Varsomers1154233
Maprs1154233
PheGenIrs1154233
hapmaprs1154233
1000 genomesrs1154233
hgdprs1154233
ensemblrs1154233
gopubmedrs1154233
geneviewrs1154233
scholarrs1154233
googlers1154233
pharmgkbrs1154233
gwascentralrs1154233
openSNPrs1154233
23andMers1154233
23andMe allrs1154233
SNP Nexus

SNPshotrs1154233
SNPdbers1154233
MSV3drs1154233
GWAS Ctlgrs1154233
GMAF0
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene LAMA3
allele G
frequency 1
sift TOLERATED
HuRef 1103645154355
Disease Association Defects in LAMA3 are the cause of laryngoonychocutaneous syndrome (LOCS) (MIM:245660). LOCS is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx.



GET Evidence
LAMA3-S2834G
aa_change Ser2834Gly
aa_change_short S2834G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 1
summary



ClinVar
Risk Rs1154233(G;G)
Alt Rs1154233(G;G)
Reference rs1154233(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene LAMA3
CLNDBN not specified
Reversed 0
HGVS NC_000018.9:g.21511089A>G
CLNSRC
CLNACC RCV000242248.1,