Difference between revisions of "Rs41292677"

Latest revision as of 13:02, 6 December 2019

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;G)	3	Carrier of a mutation for Stargardt disease
(G;G)	6	Stargardt disease

Reference

GRCh38 38.1/141

Chromosome

1

Position

94001992

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs41292677
dbSNP (classic)	rs41292677
ClinGen	rs41292677
ebi	rs41292677
HLI	rs41292677
Exac	rs41292677
Gnomad	rs41292677
Varsome	rs41292677
LitVar	rs41292677
Map	rs41292677
PheGenI	rs41292677
Biobank	rs41292677
1000 genomes	rs41292677
hgdp	rs41292677
ensembl	rs41292677
geneview	rs41292677
scholar	rs41292677
google	rs41292677
pharmgkb	rs41292677
gwascentral	rs41292677
openSNP	rs41292677
23andMe	rs41292677
SNPshot	rs41292677
SNPdbe	rs41292677
MSV3d	rs41292677
GWAS Ctlg	rs41292677

GMAF

0.003673

Max Magnitude

6

aka c.6148G>C, p.Val2050Leu or V2050L; in at least one earlier publication, referred to as V2012L (p.Val2012Leu)

On it's own, the pathogenicity of this variant is questioned by several submitters to ClinVar, as is it's linked co-variant, rs61751406, in a haplotype also listed in ClinVar.

OMIM	601691
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs41292677(G;G)
Alt	Rs41292677(G;G)
Reference	Rs41292677(C;C)
Significance	Other
Disease	Stargardt disease 1 not provided not specified Cone-Rod Dystrophy Stargardt Disease Retinitis Pigmentosa Macular degeneration
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1 not provided not specified Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Macular degeneration
Reversed	0
HGVS	NC_000001.10:g.94467548C>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008335.5, RCV000078671.7, RCV000259072.1, RCV000285333.1, RCV000340261.1, RCV000393715.1, RCV000393726.1, RCV000408516.1,

@@ Line 1: / Line 1: @@
 {{Rsnum
 |rsid=41292677
+|Gene=ABCA4
 |Chromosome=1
+|position=94001992
 |Orientation=plus
+|GMAF=0.003673
+|Assembly=GRCh38
+|GenomeBuild=38.1
+|dbSNPBuild=141
 |geno1=(C;C)
 |geno2=(C;G)
 |geno3=(G;G)
-|Gene=ABCA4
+|Gene_s=ABCA4
-|position=94467548
+|StabilizedOrientation=plus
-|Assembly=GRCh37
+}}
-|GenomeBuild=37.1
+aka c.6148G>C, p.Val2050Leu or V2050L; in at least one earlier publication, referred to as V2012L (p.Val2012Leu)
-|dbSNPBuild=132
-}}{{omim
+On it's own, the pathogenicity of this variant is questioned by several submitters to ClinVar, as is it's linked co-variant, [[rs61751406]], in a haplotype also listed in ClinVar.
+{{omim
 |id=601691
 |rsnum=41292677
 |variant=0005
 }}
+{{ClinVar
+|rsid=41292677
+|Reversed=0
+|FwdREF=C
+|FwdALT=G
+|REF=C
+|ALT=G
+|RSPOS=94467548
+|CHROM=1
+|GMAF=0.0037
+|dbSNPBuildID=127
+|SSR=0
+|SAO=1
+|VP=0x050368000a05040536110100
+|GENEINFO=ABCA4:24
+|GENE_NAME=ABCA4
+|GENE_ID=24
+|WGT=1
+|VC=SNV
+|CLNALLE=1
+|CLNHGVS=NC_000001.10:g.94467548C>G
+|CLNSRC=HGMD; OMIM Allelic Variant; UniProtKB (protein)
+|CLNORIGIN=1
+|CLNSRCID=CM970020; 601691.0005; P78363#VAR_008481
+|CLNSIG=255
+|CLNCUI=C1855465
+|CLNDBN=Stargardt disease 1; not provided; not specified; Cone-Rod Dystrophy, Recessive; Stargardt Disease, Recessive; Retinitis Pigmentosa, Recessive; Macular degeneration
+|Disease=Stargardt disease 1; not provided; not specified; Cone-Rod Dystrophy; Stargardt Disease; Retinitis Pigmentosa; Macular degeneration
+|CLNACC=RCV000008335.5; RCV000078671.7; RCV000259072.1; RCV000285333.1; RCV000340261.1; RCV000393715.1; RCV000393726.1; RCV000408516.1
+|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPhase3;LSD;OM
+|CAF=0.9972; 0.002796
+|CLNDSDB=MedGen:OMIM; MedGen; Human_Phenotype_Ontology:MedGen
+|CLNDSDBID=C1855465:248200; CN221809; CN169374; CN239309; CN239312; CN239466; HP:0000608:C0024437
+|COMMON=1
+|CLNREVSTAT=conf; single
+}}
 {{on chip | 23andMe v2}}
 {{on chip | 23andMe v3}}
+{{on chip | 23andMe v4}}
+{{on chip | Ancestry v2}}
+{{on chip | Ancestry v2d}}