SNP Links for Gene (Select 5906) - SNP

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Select item 14915512381.

rs1491551238 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:111542085 (GRCh38)
1:112084707 (GRCh37)
Canonical SPDI:: NC_000001.11:111542084:CT:
Gene:: RAP1A (Varview), TMIGD3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/1 (GnomAD)
HGVS:: NC_000001.11:g.111542085_111542086del, NC_000001.10:g.112084707_112084708del, NG_032119.1:g.26890_26891del, NM_001370216.2:c.-452_-451del, NM_001370216.1:c.-452_-451del

Select item 14915347822.

rs1491534782 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 1:111542697 (GRCh38)
1:112085320 (GRCh37)
Canonical SPDI:: NC_000001.11:111542697:TTTT:TTTTGTTTT
Gene:: RAP1A (Varview), TMIGD3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTGTTTT=0.00014/2 (ALFA)
TTTTG=0.00326/11 (GnomAD)
HGVS:: NC_000001.11:g.111542698_111542701T[4]GTTTT[1], NC_000001.10:g.112085320_112085323T[4]GTTTT[1], NG_032119.1:g.26275_26278A[4]CAAAA[1]

Select item 14915317893.

rs1491531789 has merged into rs11322950 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 1:111661810 (GRCh38)
1:112204432 (GRCh37)
Canonical SPDI:: NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.120072/67 (NorthernSweden)
-=0.317093/1588 (1000Genomes)
HGVS:: NC_000001.11:g.111661810_111661817del, NC_000001.11:g.111661813_111661817del, NC_000001.11:g.111661814_111661817del, NC_000001.11:g.111661815_111661817del, NC_000001.11:g.111661816_111661817del, NC_000001.11:g.111661817del, NC_000001.11:g.111661817dup, NC_000001.11:g.111661816_111661817dup, NC_000001.11:g.111661815_111661817dup, NC_000001.10:g.112204432_112204439del, NC_000001.10:g.112204435_112204439del, NC_000001.10:g.112204436_112204439del, NC_000001.10:g.112204437_112204439del, NC_000001.10:g.112204438_112204439del, NC_000001.10:g.112204439del, NC_000001.10:g.112204439dup, NC_000001.10:g.112204438_112204439dup, NC_000001.10:g.112204437_112204439dup

Select item 14915191294.

rs1491519129 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:111617046 (GRCh38)
1:112159668 (GRCh37)
Canonical SPDI:: NC_000001.11:111617045:AT:
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.111617046_111617047del, NC_000001.10:g.112159668_112159669del

Select item 14915174915.

rs1491517491 has merged into rs57681662 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:111650104 (GRCh38)
1:112192726 (GRCh37)
Canonical SPDI:: NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111650093:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.111650104_111650118del, NC_000001.11:g.111650105_111650118del, NC_000001.11:g.111650106_111650118del, NC_000001.11:g.111650107_111650118del, NC_000001.11:g.111650108_111650118del, NC_000001.11:g.111650110_111650118del, NC_000001.11:g.111650111_111650118del, NC_000001.11:g.111650112_111650118del, NC_000001.11:g.111650113_111650118del, NC_000001.11:g.111650114_111650118del, NC_000001.11:g.111650115_111650118del, NC_000001.11:g.111650116_111650118del, NC_000001.11:g.111650117_111650118del, NC_000001.11:g.111650118del, NC_000001.11:g.111650118dup, NC_000001.11:g.111650117_111650118dup, NC_000001.11:g.111650094_111650118T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.111650116_111650118dup, NC_000001.11:g.111650115_111650118dup, NC_000001.11:g.111650114_111650118dup, NC_000001.11:g.111650113_111650118dup, NC_000001.11:g.111650112_111650118dup, NC_000001.11:g.111650111_111650118dup, NC_000001.11:g.111650110_111650118dup, NC_000001.11:g.111650109_111650118dup, NC_000001.11:g.111650108_111650118dup, NC_000001.11:g.111650107_111650118dup, NC_000001.11:g.111650094_111650118T[40]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.111650101_111650118dup, NC_000001.11:g.111650100_111650118dup, NC_000001.11:g.111650099_111650118dup, NC_000001.11:g.111650096_111650118dup, NC_000001.11:g.111650095_111650118dup, NC_000001.11:g.111650118_111650119insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.111650118_111650119insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.111650118_111650119insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.112192726_112192740del, NC_000001.10:g.112192727_112192740del, NC_000001.10:g.112192728_112192740del, NC_000001.10:g.112192729_112192740del, NC_000001.10:g.112192730_112192740del, NC_000001.10:g.112192732_112192740del, NC_000001.10:g.112192733_112192740del, NC_000001.10:g.112192734_112192740del, NC_000001.10:g.112192735_112192740del, NC_000001.10:g.112192736_112192740del, NC_000001.10:g.112192737_112192740del, NC_000001.10:g.112192738_112192740del, NC_000001.10:g.112192739_112192740del, NC_000001.10:g.112192740del, NC_000001.10:g.112192740dup, NC_000001.10:g.112192739_112192740dup, NC_000001.10:g.112192716_112192740T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.112192738_112192740dup, NC_000001.10:g.112192737_112192740dup, NC_000001.10:g.112192736_112192740dup, NC_000001.10:g.112192735_112192740dup, NC_000001.10:g.112192734_112192740dup, NC_000001.10:g.112192733_112192740dup, NC_000001.10:g.112192732_112192740dup, NC_000001.10:g.112192731_112192740dup, NC_000001.10:g.112192730_112192740dup, NC_000001.10:g.112192729_112192740dup, NC_000001.10:g.112192716_112192740T[40]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.112192723_112192740dup, NC_000001.10:g.112192722_112192740dup, NC_000001.10:g.112192721_112192740dup, NC_000001.10:g.112192718_112192740dup, NC_000001.10:g.112192717_112192740dup, NC_000001.10:g.112192740_112192741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.112192740_112192741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.112192740_112192741insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915154606.

rs1491515460 has merged into rs11435540 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:111699473 (GRCh38)
1:112242095 (GRCh37)
Canonical SPDI:: NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111699463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.1807/905 (1000Genomes)
HGVS:: NC_000001.11:g.111699473_111699479del, NC_000001.11:g.111699474_111699479del, NC_000001.11:g.111699475_111699479del, NC_000001.11:g.111699476_111699479del, NC_000001.11:g.111699477_111699479del, NC_000001.11:g.111699478_111699479del, NC_000001.11:g.111699479del, NC_000001.11:g.111699479dup, NC_000001.11:g.111699478_111699479dup, NC_000001.11:g.111699477_111699479dup, NC_000001.11:g.111699476_111699479dup, NC_000001.11:g.111699475_111699479dup, NC_000001.11:g.111699474_111699479dup, NC_000001.11:g.111699473_111699479dup, NC_000001.11:g.111699472_111699479dup, NC_000001.11:g.111699471_111699479dup, NC_000001.11:g.111699470_111699479dup, NC_000001.11:g.111699469_111699479dup, NC_000001.11:g.111699468_111699479dup, NC_000001.11:g.111699479_111699480insTTTTTTTTTTTTTTTTT, NC_000001.10:g.112242095_112242101del, NC_000001.10:g.112242096_112242101del, NC_000001.10:g.112242097_112242101del, NC_000001.10:g.112242098_112242101del, NC_000001.10:g.112242099_112242101del, NC_000001.10:g.112242100_112242101del, NC_000001.10:g.112242101del, NC_000001.10:g.112242101dup, NC_000001.10:g.112242100_112242101dup, NC_000001.10:g.112242099_112242101dup, NC_000001.10:g.112242098_112242101dup, NC_000001.10:g.112242097_112242101dup, NC_000001.10:g.112242096_112242101dup, NC_000001.10:g.112242095_112242101dup, NC_000001.10:g.112242094_112242101dup, NC_000001.10:g.112242093_112242101dup, NC_000001.10:g.112242092_112242101dup, NC_000001.10:g.112242091_112242101dup, NC_000001.10:g.112242090_112242101dup, NC_000001.10:g.112242101_112242102insTTTTTTTTTTTTTTTTT

Select item 14914454907.

rs1491445490 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:111685434 (GRCh38)
1:112228057 (GRCh37)
Canonical SPDI:: NC_000001.11:111685434:G:GG
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.111685435dup, NC_000001.10:g.112228057dup

Select item 14914422628.

rs1491442262 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 1:111617056 (GRCh38)
1:112159678 (GRCh37)
Canonical SPDI:: NC_000001.11:111617046:TGTGTGTGTGT:TGTGTGTGT,NC_000001.11:111617046:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
TG=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111617048GT[4], NC_000001.11:g.111617048GT[6], NC_000001.10:g.112159670GT[4], NC_000001.10:g.112159670GT[6]

Select item 14914256129.

rs1491425612 has merged into rs66509119 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:111542700 (GRCh38)
1:112085322 (GRCh37)
Canonical SPDI:: NC_000001.11:111542696:TTTTTTTTTT:TTT,NC_000001.11:111542696:TTTTTTTTTT:TTTTTTTT,NC_000001.11:111542696:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:111542696:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:111542696:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: RAP1A (Varview), TMIGD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0./0 (GENOME_DK)
T=0.0008/3 (TWINSUK)
T=0.0016/6 (ALSPAC)
T=0.0083/5 (NorthernSweden)
T=0.1272/637 (1000Genomes)
T=0.1818/333 (Korea1K)
HGVS:: NC_000001.11:g.111542700_111542706del, NC_000001.11:g.111542705_111542706del, NC_000001.11:g.111542706del, NC_000001.11:g.111542706dup, NC_000001.11:g.111542699_111542706dup, NC_000001.10:g.112085322_112085328del, NC_000001.10:g.112085327_112085328del, NC_000001.10:g.112085328del, NC_000001.10:g.112085328dup, NC_000001.10:g.112085321_112085328dup, NG_032119.1:g.26273_26279del, NG_032119.1:g.26278_26279del, NG_032119.1:g.26279del, NG_032119.1:g.26279dup, NG_032119.1:g.26272_26279dup

Select item 149141137310.

rs1491411373 has merged into rs35277322 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:111687218 (GRCh38)
1:112229840 (GRCh37)
Canonical SPDI:: NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:111687208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4099/2053 (1000Genomes)
HGVS:: NC_000001.11:g.111687218_111687225del, NC_000001.11:g.111687222_111687225del, NC_000001.11:g.111687223_111687225del, NC_000001.11:g.111687224_111687225del, NC_000001.11:g.111687225del, NC_000001.11:g.111687225dup, NC_000001.11:g.111687224_111687225dup, NC_000001.11:g.111687223_111687225dup, NC_000001.11:g.111687217_111687225dup, NC_000001.10:g.112229840_112229847del, NC_000001.10:g.112229844_112229847del, NC_000001.10:g.112229845_112229847del, NC_000001.10:g.112229846_112229847del, NC_000001.10:g.112229847del, NC_000001.10:g.112229847dup, NC_000001.10:g.112229846_112229847dup, NC_000001.10:g.112229845_112229847dup, NC_000001.10:g.112229839_112229847dup

Select item 149135020511.

rs1491350205 has merged into rs60481679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:111662404 (GRCh38)
1:112205026 (GRCh37)
Canonical SPDI:: NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:111662394:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.111662404_111662418del, NC_000001.11:g.111662405_111662418del, NC_000001.11:g.111662410_111662418del, NC_000001.11:g.111662411_111662418del, NC_000001.11:g.111662412_111662418del, NC_000001.11:g.111662413_111662418del, NC_000001.11:g.111662414_111662418del, NC_000001.11:g.111662415_111662418del, NC_000001.11:g.111662416_111662418del, NC_000001.11:g.111662417_111662418del, NC_000001.11:g.111662418del, NC_000001.11:g.111662418dup, NC_000001.11:g.111662417_111662418dup, NC_000001.11:g.111662416_111662418dup, NC_000001.11:g.111662415_111662418dup, NC_000001.11:g.111662413_111662418dup, NC_000001.11:g.111662412_111662418dup, NC_000001.11:g.111662407_111662418dup, NC_000001.11:g.111662418_111662419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.112205026_112205040del, NC_000001.10:g.112205027_112205040del, NC_000001.10:g.112205032_112205040del, NC_000001.10:g.112205033_112205040del, NC_000001.10:g.112205034_112205040del, NC_000001.10:g.112205035_112205040del, NC_000001.10:g.112205036_112205040del, NC_000001.10:g.112205037_112205040del, NC_000001.10:g.112205038_112205040del, NC_000001.10:g.112205039_112205040del, NC_000001.10:g.112205040del, NC_000001.10:g.112205040dup, NC_000001.10:g.112205039_112205040dup, NC_000001.10:g.112205038_112205040dup, NC_000001.10:g.112205037_112205040dup, NC_000001.10:g.112205035_112205040dup, NC_000001.10:g.112205034_112205040dup, NC_000001.10:g.112205029_112205040dup, NC_000001.10:g.112205040_112205041insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149131776212.

rs1491317762 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:111650093 (GRCh38)
1:112192715 (GRCh37)
Canonical SPDI:: NC_000001.11:111650092:CT:
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.111650093_111650094del, NC_000001.10:g.112192715_112192716del

Select item 149130361113.

rs1491303611 has merged into rs34499342 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 1:111648215 (GRCh38)
1:112190837 (GRCh37)
Canonical SPDI:: NC_000001.11:111648205:TTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:111648205:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:111648205:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:111648205:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:111648205:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.111648215_111648218del, NC_000001.11:g.111648216_111648218del, NC_000001.11:g.111648217_111648218del, NC_000001.11:g.111648218del, NC_000001.11:g.111648218dup, NC_000001.10:g.112190837_112190840del, NC_000001.10:g.112190838_112190840del, NC_000001.10:g.112190839_112190840del, NC_000001.10:g.112190840del, NC_000001.10:g.112190840dup, NG_022732.2:g.1489_1492del, NG_022732.2:g.1490_1492del, NG_022732.2:g.1491_1492del, NG_022732.2:g.1492del, NG_022732.2:g.1492dup

Select item 149129405014.

rs1491294050 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:111556915 (GRCh38)
1:112099537 (GRCh37)
Canonical SPDI:: NC_000001.11:111556913:TGT:T
Gene:: RAP1A (Varview), TMIGD3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0083/32 (ALSPAC)
-=0.0084/31 (TWINSUK)
HGVS:: NC_000001.11:g.111556915_111556916del, NC_000001.10:g.112099537_112099538del, NG_032119.1:g.12061_12062del

Select item 149127291915.

rs1491272919 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:111653683 (GRCh38)
1:112196305 (GRCh37)
Canonical SPDI:: NC_000001.11:111653682:CA:
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.111653683_111653684del, NC_000001.10:g.112196305_112196306del

Select item 149124735416.

rs1491247354 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATA [Show Flanks]
Chromosome:: 1:111626400 (GRCh38)
1:112169023 (GRCh37)
Canonical SPDI:: NC_000001.11:111626400:A:ACATA
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACATA=0./0 (ALFA)
ACAT=0.000016/2 (GnomAD)
HGVS:: NC_000001.11:g.111626401_111626402insCATA, NC_000001.10:g.112169023_112169024insCATA

Select item 149123642817.

rs1491236428 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:111662394 (GRCh38)
1:112205016 (GRCh37)
Canonical SPDI:: NC_000001.11:111662393:CA:
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00303/36 (ALFA)
HGVS:: NC_000001.11:g.111662394_111662395del, NC_000001.10:g.112205016_112205017del

Select item 149115831918.

rs1491158319 has merged into rs11414021 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:111642795 (GRCh38)
1:112185417 (GRCh37)
Canonical SPDI:: NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111642786:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3676/1841 (1000Genomes)
HGVS:: NC_000001.11:g.111642795_111642803del, NC_000001.11:g.111642799_111642803del, NC_000001.11:g.111642800_111642803del, NC_000001.11:g.111642801_111642803del, NC_000001.11:g.111642802_111642803del, NC_000001.11:g.111642803del, NC_000001.11:g.111642803dup, NC_000001.11:g.111642802_111642803dup, NC_000001.11:g.111642801_111642803dup, NC_000001.11:g.111642800_111642803dup, NC_000001.11:g.111642799_111642803dup, NC_000001.11:g.111642797_111642803dup, NC_000001.10:g.112185417_112185425del, NC_000001.10:g.112185421_112185425del, NC_000001.10:g.112185422_112185425del, NC_000001.10:g.112185423_112185425del, NC_000001.10:g.112185424_112185425del, NC_000001.10:g.112185425del, NC_000001.10:g.112185425dup, NC_000001.10:g.112185424_112185425dup, NC_000001.10:g.112185423_112185425dup, NC_000001.10:g.112185422_112185425dup, NC_000001.10:g.112185421_112185425dup, NC_000001.10:g.112185419_112185425dup

Select item 149115130219.

rs1491151302 has merged into rs35807618 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:111542096 (GRCh38)
1:112084718 (GRCh37)
Canonical SPDI:: NC_000001.11:111542085:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:111542085:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:111542085:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:111542085:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:111542085:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111542085:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:111542085:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:111542085:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: RAP1A (Varview), TMIGD3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4051/269 (1000Genomes)
HGVS:: NC_000001.11:g.111542096_111542100del, NC_000001.11:g.111542097_111542100del, NC_000001.11:g.111542098_111542100del, NC_000001.11:g.111542099_111542100del, NC_000001.11:g.111542100del, NC_000001.11:g.111542100dup, NC_000001.11:g.111542099_111542100dup, NC_000001.11:g.111542098_111542100dup, NC_000001.10:g.112084718_112084722del, NC_000001.10:g.112084719_112084722del, NC_000001.10:g.112084720_112084722del, NC_000001.10:g.112084721_112084722del, NC_000001.10:g.112084722del, NC_000001.10:g.112084722dup, NC_000001.10:g.112084721_112084722dup, NC_000001.10:g.112084720_112084722dup, NG_032119.1:g.26886_26890del, NG_032119.1:g.26887_26890del, NG_032119.1:g.26888_26890del, NG_032119.1:g.26889_26890del, NG_032119.1:g.26890del, NG_032119.1:g.26890dup, NG_032119.1:g.26889_26890dup, NG_032119.1:g.26888_26890dup, NM_001370216.2:c.-441_-437del, NM_001370216.2:c.-440_-437del, NM_001370216.2:c.-439_-437del, NM_001370216.2:c.-438_-437del, NM_001370216.2:c.-437del, NM_001370216.2:c.-437dup, NM_001370216.2:c.-438_-437dup, NM_001370216.2:c.-439_-437dup, NM_001370216.1:c.-441_-437del, NM_001370216.1:c.-440_-437del, NM_001370216.1:c.-439_-437del, NM_001370216.1:c.-438_-437del, NM_001370216.1:c.-437del, NM_001370216.1:c.-437dup, NM_001370216.1:c.-438_-437dup, NM_001370216.1:c.-439_-437dup

Select item 149114677520.

rs1491146775 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:111699464 (GRCh38)
1:112242087 (GRCh37)
Canonical SPDI:: NC_000001.11:111699464::C
Gene:: RAP1A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.111699464_111699465insC, NC_000001.10:g.112242086_112242087insC

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