SNP Links for Gene (Select 5983) - SNP

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Select item 14915779561.

rs1491577956 has merged into rs5802698 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 13:33915810 (GRCh38)
13:34489947 (GRCh37)
Canonical SPDI:: NC_000013.11:33915798:TATATATATATATAT:TATATATATAT,NC_000013.11:33915798:TATATATATATATAT:TATATATATATAT,NC_000013.11:33915798:TATATATATATATAT:TATATATATATATATAT,NC_000013.11:33915798:TATATATATATATAT:TATATATATATATATATAT,NC_000013.11:33915798:TATATATATATATAT:TATATATATATATATATATAT,NC_000013.11:33915798:TATATATATATATAT:TATATATATATATATATATATAT
Gene:: RFC3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.025/1 (GENOME_DK)
TA=0.12902/578 (Estonian)
TA=0.13833/83 (NorthernSweden)
TA=0.23303/1167 (1000Genomes)
HGVS:: NC_000013.11:g.33915800AT[5], NC_000013.11:g.33915800AT[6], NC_000013.11:g.33915800AT[8], NC_000013.11:g.33915800AT[9], NC_000013.11:g.33915800AT[10], NC_000013.11:g.33915800AT[11], NC_000013.10:g.34489937AT[5], NC_000013.10:g.34489937AT[6], NC_000013.10:g.34489937AT[8], NC_000013.10:g.34489937AT[9], NC_000013.10:g.34489937AT[10], NC_000013.10:g.34489937AT[11], XM_017020680.3:c.*26611AT[5], XM_017020680.3:c.*26611AT[6], XM_017020680.3:c.*26611AT[8], XM_017020680.3:c.*26611AT[9], XM_017020680.3:c.*26611AT[10], XM_017020680.3:c.*26611AT[11], XM_047430489.1:c.*24761AT[5], XM_047430489.1:c.*24761AT[6], XM_047430489.1:c.*24761AT[8], XM_047430489.1:c.*24761AT[9], XM_047430489.1:c.*24761AT[10], XM_047430489.1:c.*24761AT[11], XM_047430490.1:c.*7876AT[5], XM_047430490.1:c.*7876AT[6], XM_047430490.1:c.*7876AT[8], XM_047430490.1:c.*7876AT[9], XM_047430490.1:c.*7876AT[10], XM_047430490.1:c.*7876AT[11], XR_007063695.1:n.27583AT[5], XR_007063695.1:n.27583AT[6], XR_007063695.1:n.27583AT[8], XR_007063695.1:n.27583AT[9], XR_007063695.1:n.27583AT[10], XR_007063695.1:n.27583AT[11]

Select item 14915587232.

rs1491558723 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:33818881 (GRCh38)
13:34393018 (GRCh37)
Canonical SPDI:: NC_000013.11:33818880:GT:
Gene:: RFC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000053/6 (GnomAD)
-=0.00006/1 (TOMMO)
HGVS:: NC_000013.11:g.33818881_33818882del, NC_000013.10:g.34393018_34393019del

Select item 14915442533.

rs1491544253 has merged into rs932755595 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 13:33924682 (GRCh38)
13:34498819 (GRCh37)
Canonical SPDI:: NC_000013.11:33924674:TATATATATAT:TATATAT,NC_000013.11:33924674:TATATATATAT:TATATATAT,NC_000013.11:33924674:TATATATATAT:TATATATATATAT
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TA=0.00244/41 (TOMMO)
HGVS:: NC_000013.11:g.33924676AT[3], NC_000013.11:g.33924676AT[4], NC_000013.11:g.33924676AT[6], NC_000013.10:g.34498813AT[3], NC_000013.10:g.34498813AT[4], NC_000013.10:g.34498813AT[6], XM_017020680.3:c.*35487AT[3], XM_017020680.3:c.*35487AT[4], XM_017020680.3:c.*35487AT[6], XM_047430489.1:c.*33637AT[3], XM_047430489.1:c.*33637AT[4], XM_047430489.1:c.*33637AT[6], XM_047430490.1:c.*16752AT[3], XM_047430490.1:c.*16752AT[4], XM_047430490.1:c.*16752AT[6], XR_007063695.1:n.36459AT[3], XR_007063695.1:n.36459AT[4], XR_007063695.1:n.36459AT[6]

Select item 14915342854.

rs1491534285 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATATATCT,ATATATCT,ATT,T [Show Flanks]
Chromosome:: 13:33834330 (GRCh38)
13:34408468 (GRCh37)
Canonical SPDI:: NC_000013.11:33834330:T:TATATATATATATATCT,NC_000013.11:33834330:T:TATATATCT,NC_000013.11:33834330:T:TATT,NC_000013.11:33834330:T:TT
Gene:: RFC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
TATATATATATATATC=0.00016/1 (1000Genomes)
HGVS:: NC_000013.11:g.33834331TA[7]TCT[1], NC_000013.11:g.33834331TA[3]TCT[1], NC_000013.11:g.33834331_33834332insATT, NC_000013.11:g.33834331dup, NC_000013.10:g.34408468TA[7]TCT[1], NC_000013.10:g.34408468TA[3]TCT[1], NC_000013.10:g.34408468_34408469insATT, NC_000013.10:g.34408468dup

Select item 14915155865.

rs1491515586 has merged into rs11336021 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:33951248 (GRCh38)
13:34525385 (GRCh37)
Canonical SPDI:: NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:33951233:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.06856/41 (NorthernSweden)
HGVS:: NC_000013.11:g.33951248_33951250del, NC_000013.11:g.33951249_33951250del, NC_000013.11:g.33951250del, NC_000013.11:g.33951250dup, NC_000013.11:g.33951249_33951250dup, NC_000013.11:g.33951243_33951250dup, NC_000013.11:g.33951237_33951250dup, NC_000013.11:g.33951236_33951250dup, NC_000013.11:g.33951250_33951251insTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.33951250_33951251insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.33951250_33951251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.33951250_33951251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.33951250_33951251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.33951250_33951251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.33951250_33951251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.33951250_33951251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.34525385_34525387del, NC_000013.10:g.34525386_34525387del, NC_000013.10:g.34525387del, NC_000013.10:g.34525387dup, NC_000013.10:g.34525386_34525387dup, NC_000013.10:g.34525380_34525387dup, NC_000013.10:g.34525374_34525387dup, NC_000013.10:g.34525373_34525387dup, NC_000013.10:g.34525387_34525388insTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.34525387_34525388insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.34525387_34525388insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.34525387_34525388insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.34525387_34525388insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.34525387_34525388insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.34525387_34525388insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.34525387_34525388insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020680.3:c.*62059_*62061del, XM_017020680.3:c.*62060_*62061del, XM_017020680.3:c.*62061del, XM_017020680.3:c.*62061dup, XM_017020680.3:c.*62060_*62061dup, XM_017020680.3:c.*62054_*62061dup, XM_017020680.3:c.*62048_*62061dup, XM_017020680.3:c.*62047_*62061dup, XM_017020680.3:c.*62061_*62062insTTTTTTTTTTTTTTTTTTT, XM_017020680.3:c.*62061_*62062insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020680.3:c.*62061_*62062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020680.3:c.*62061_*62062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020680.3:c.*62061_*62062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020680.3:c.*62061_*62062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020680.3:c.*62061_*62062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020680.3:c.*62061_*62062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020682.3:c.*6494_*6496del, XM_017020682.3:c.*6495_*6496del, XM_017020682.3:c.*6496del, XM_017020682.3:c.*6496dup, XM_017020682.3:c.*6495_*6496dup, XM_017020682.3:c.*6489_*6496dup, XM_017020682.3:c.*6483_*6496dup, XM_017020682.3:c.*6482_*6496dup, XM_017020682.3:c.*6496_*6497insTTTTTTTTTTTTTTTTTTT, XM_017020682.3:c.*6496_*6497insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020682.3:c.*6496_*6497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020682.3:c.*6496_*6497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020682.3:c.*6496_*6497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020682.3:c.*6496_*6497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020682.3:c.*6496_*6497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017020682.3:c.*6496_*6497insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430489.1:c.*60209_*60211del, XM_047430489.1:c.*60210_*60211del, XM_047430489.1:c.*60211del, XM_047430489.1:c.*60211dup, XM_047430489.1:c.*60210_*60211dup, XM_047430489.1:c.*60204_*60211dup, XM_047430489.1:c.*60198_*60211dup, XM_047430489.1:c.*60197_*60211dup, XM_047430489.1:c.*60211_*60212insTTTTTTTTTTTTTTTTTTT, XM_047430489.1:c.*60211_*60212insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430489.1:c.*60211_*60212insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430489.1:c.*60211_*60212insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430489.1:c.*60211_*60212insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430489.1:c.*60211_*60212insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430489.1:c.*60211_*60212insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430489.1:c.*60211_*60212insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430490.1:c.*43324_*43326del, XM_047430490.1:c.*43325_*43326del, XM_047430490.1:c.*43326del, XM_047430490.1:c.*43326dup, XM_047430490.1:c.*43325_*43326dup, XM_047430490.1:c.*43319_*43326dup, XM_047430490.1:c.*43313_*43326dup, XM_047430490.1:c.*43312_*43326dup, XM_047430490.1:c.*43326_*43327insTTTTTTTTTTTTTTTTTTT, XM_047430490.1:c.*43326_*43327insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430490.1:c.*43326_*43327insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430490.1:c.*43326_*43327insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430490.1:c.*43326_*43327insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430490.1:c.*43326_*43327insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430490.1:c.*43326_*43327insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047430490.1:c.*43326_*43327insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915085676.

rs1491508567 has merged into rs1555244675 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 13:33950108 (GRCh38)
13:34524245 (GRCh37)
Canonical SPDI:: NC_000013.11:33950105:CCCC:CC,NC_000013.11:33950105:CCCC:CCCCCC
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.00007/2 (TOMMO)
-=0.01557/60 (ALSPAC)
-=0.04773/177 (TWINSUK)
HGVS:: NC_000013.11:g.33950108_33950109del, NC_000013.11:g.33950108_33950109dup, NC_000013.10:g.34524245_34524246del, NC_000013.10:g.34524245_34524246dup, XM_017020680.3:c.*60919_*60920del, XM_017020680.3:c.*60919_*60920dup, XM_017020682.3:c.*5354_*5355del, XM_017020682.3:c.*5354_*5355dup, XM_047430489.1:c.*59069_*59070del, XM_047430489.1:c.*59069_*59070dup, XM_047430490.1:c.*42184_*42185del, XM_047430490.1:c.*42184_*42185dup

Select item 14915050077.

rs1491505007 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:33842304 (GRCh38)
13:34416441 (GRCh37)
Canonical SPDI:: NC_000013.11:33842302:AGA:A
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.33842304_33842305del, NC_000013.10:g.34416441_34416442del

Select item 14914881388.

rs1491488138 has merged into rs56329636 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:33900843 (GRCh38)
13:34474980 (GRCh37)
Canonical SPDI:: NC_000013.11:33900833:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:33900833:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:33900833:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:33900833:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:33900833:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:33900833:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:33900833:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:33900833:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: RFC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.097/374 (ALSPAC)
A=0.1909/956 (1000Genomes)
HGVS:: NC_000013.11:g.33900843_33900847del, NC_000013.11:g.33900845_33900847del, NC_000013.11:g.33900846_33900847del, NC_000013.11:g.33900847del, NC_000013.11:g.33900847dup, NC_000013.11:g.33900846_33900847dup, NC_000013.11:g.33900845_33900847dup, NC_000013.11:g.33900841_33900847dup, NC_000013.10:g.34474980_34474984del, NC_000013.10:g.34474982_34474984del, NC_000013.10:g.34474983_34474984del, NC_000013.10:g.34474984del, NC_000013.10:g.34474984dup, NC_000013.10:g.34474983_34474984dup, NC_000013.10:g.34474982_34474984dup, NC_000013.10:g.34474978_34474984dup, XM_017020680.3:c.*11654_*11658del, XM_017020680.3:c.*11656_*11658del, XM_017020680.3:c.*11657_*11658del, XM_017020680.3:c.*11658del, XM_017020680.3:c.*11658dup, XM_017020680.3:c.*11657_*11658dup, XM_017020680.3:c.*11656_*11658dup, XM_017020680.3:c.*11652_*11658dup, XM_047430489.1:c.*9804_*9808del, XM_047430489.1:c.*9806_*9808del, XM_047430489.1:c.*9807_*9808del, XM_047430489.1:c.*9808del, XM_047430489.1:c.*9808dup, XM_047430489.1:c.*9807_*9808dup, XM_047430489.1:c.*9806_*9808dup, XM_047430489.1:c.*9802_*9808dup, XR_007063695.1:n.12626_12630del, XR_007063695.1:n.12628_12630del, XR_007063695.1:n.12629_12630del, XR_007063695.1:n.12630del, XR_007063695.1:n.12630dup, XR_007063695.1:n.12629_12630dup, XR_007063695.1:n.12628_12630dup, XR_007063695.1:n.12624_12630dup

Select item 14914278999.

rs1491427899 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:33843205 (GRCh38)
13:34417342 (GRCh37)
Canonical SPDI:: NC_000013.11:33843203:TGT:T
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000285/4 (ALFA)
-=0.000238/63 (TOPMED)
-=0.00086/31 (GnomAD)
HGVS:: NC_000013.11:g.33843205_33843206del, NC_000013.10:g.34417342_34417343del

Select item 149139225710.

rs1491392257 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAG [Show Flanks]
Chromosome:: 13:33900538 (GRCh38)
13:34474676 (GRCh37)
Canonical SPDI:: NC_000013.11:33900538:TAAG:TAAGTAAG
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAGTAAG=0.000066/1 (ALFA)
TAAG=0.000022/3 (GnomAD)
TAAG=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.33900539_33900542dup, NC_000013.10:g.34474676_34474679dup, XM_017020680.3:c.*11350_*11353dup, XM_047430489.1:c.*9500_*9503dup, XR_007063695.1:n.12322_12325dup

Select item 149138021711.

rs1491380217 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:33840692 (GRCh38)
13:34414829 (GRCh37)
Canonical SPDI:: NC_000013.11:33840691:GT:
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00012/14 (GnomAD)
HGVS:: NC_000013.11:g.33840692_33840693del, NC_000013.10:g.34414829_34414830del

Select item 149137627812.

rs1491376278 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:33920421 (GRCh38)
13:34494559 (GRCh37)
Canonical SPDI:: NC_000013.11:33920421::A
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00295/35 (ALFA)
A=0.00671/435 (GnomAD)
HGVS:: NC_000013.11:g.33920421_33920422insA, NC_000013.10:g.34494558_34494559insA, XM_017020680.3:c.*31232_*31233insA, XM_047430489.1:c.*29382_*29383insA, XM_047430490.1:c.*12497_*12498insA, XR_007063695.1:n.32204_32205insA

Select item 149134487213.

rs1491344872 has merged into rs796351523 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 13:33834404 (GRCh38)
13:34408541 (GRCh37)
Canonical SPDI:: NC_000013.11:33834391:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:33834391:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:33834391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:33834391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:33834391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:33834391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: RFC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.00013/2 (ALFA)
TTT=0.000004/1 (TOPMED)
-=0.003333/2 (NorthernSweden)
HGVS:: NC_000013.11:g.33834404_33834405del, NC_000013.11:g.33834405del, NC_000013.11:g.33834405dup, NC_000013.11:g.33834404_33834405dup, NC_000013.11:g.33834403_33834405dup, NC_000013.11:g.33834399_33834405dup, NC_000013.10:g.34408541_34408542del, NC_000013.10:g.34408542del, NC_000013.10:g.34408542dup, NC_000013.10:g.34408541_34408542dup, NC_000013.10:g.34408540_34408542dup, NC_000013.10:g.34408536_34408542dup

Select item 149131273614.

rs1491312736 [Homo sapiens]

Variant type:: SNV:
Alleles:: TT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149130910415.

rs1491309104 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:33834392 (GRCh38)
13:34408530 (GRCh37)
Canonical SPDI:: NC_000013.11:33834392::C
Gene:: RFC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/3 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000013.11:g.33834392_33834393insC, NC_000013.10:g.34408529_34408530insC

Select item 149129474016.

rs1491294740 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:33951234 (GRCh38)
13:34525372 (GRCh37)
Canonical SPDI:: NC_000013.11:33951234::C
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
HGVS:: NC_000013.11:g.33951234_33951235insC, NC_000013.10:g.34525371_34525372insC, XM_017020680.3:c.*62045_*62046insC, XM_017020682.3:c.*6480_*6481insC, XM_047430489.1:c.*60195_*60196insC, XM_047430490.1:c.*43310_*43311insC

Select item 149124506317.

rs1491245063 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:33900832 (GRCh38)
13:34474970 (GRCh37)
Canonical SPDI:: NC_000013.11:33900832::A
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.33900832_33900833insA, NC_000013.10:g.34474969_34474970insA, XM_017020680.3:c.*11643_*11644insA, XM_047430489.1:c.*9793_*9794insA, XR_007063695.1:n.12615_12616insA

Select item 149123255518.

rs1491232555 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 13:33900832 (GRCh38)
13:34474969 (GRCh37)
Canonical SPDI:: NC_000013.11:33900831:GC:
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.33900832_33900833del, NC_000013.10:g.34474969_34474970del, XM_017020680.3:c.*11643_*11644del, XM_047430489.1:c.*9793_*9794del, XR_007063695.1:n.12615_12616del

Select item 149112421719.

rs1491124217 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:33925712 (GRCh38)
13:34499849 (GRCh37)
Canonical SPDI:: NC_000013.11:33925708:ATATA:ATA
Gene:: RFC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000142/2 (TOMMO)
HGVS:: NC_000013.11:g.33925710TA[1], NC_000013.10:g.34499847TA[1], XM_017020680.3:c.*36521TA[1], XM_047430489.1:c.*34671TA[1], XM_047430490.1:c.*17786TA[1], XR_007063695.1:n.37493TA[1]