Links from Gene
Items: 1 to 20 of 14295
1.
rs1491465927 has merged into rs112927294 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 7:35371203
(GRCh38)
7:35410813
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35371202:TTTTTTTTTT:TTTTTTTTT,NC_000007.14:35371202:TTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:35371202:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0.01057/112
(
ALFA)
-=0.1666/780
(1000Genomes)
-=0.28107/1194
(Estonian)
- HGVS:
3.
rs1491366669 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:35357796
(GRCh38)
7:35397406
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35357794:ACA:A
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0./0
(ALSPAC)
-=0.0003/1
(TWINSUK)
- HGVS:
4.
rs1491364505 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:35333131
(GRCh38)
7:35372742
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35333131:G:GG
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000066/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
5.
rs1491319287 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTGTGTGTG,AGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 7:35338877
(GRCh38)
7:35378488
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35338877:G:GAGTGTGTGTG,NC_000007.14:35338877:G:GAGTGTGTGTGTGTG,NC_000007.14:35338877:G:GGTGTGTGTGTGTGTGTGTG
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGTGTGTGTGTGTG=0./0
(
ALFA)
GAGTGTGTGTGTGT=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491252159 has merged into rs60805593 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:35318752
(GRCh38)
7:35358362
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35318744:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.35318752_35318768del, NC_000007.14:g.35318755_35318768del, NC_000007.14:g.35318756_35318768del, NC_000007.14:g.35318757_35318768del, NC_000007.14:g.35318758_35318768del, NC_000007.14:g.35318759_35318768del, NC_000007.14:g.35318760_35318768del, NC_000007.14:g.35318761_35318768del, NC_000007.14:g.35318762_35318768del, NC_000007.14:g.35318763_35318768del, NC_000007.14:g.35318764_35318768del, NC_000007.14:g.35318765_35318768del, NC_000007.14:g.35318766_35318768del, NC_000007.14:g.35318767_35318768del, NC_000007.14:g.35318768del, NC_000007.14:g.35318768dup, NC_000007.14:g.35318767_35318768dup, NC_000007.14:g.35318766_35318768dup, NC_000007.14:g.35318765_35318768dup, NC_000007.14:g.35318764_35318768dup, NC_000007.14:g.35318763_35318768dup, NC_000007.14:g.35318762_35318768dup, NC_000007.14:g.35318761_35318768dup, NC_000007.14:g.35318760_35318768dup, NC_000007.14:g.35318759_35318768dup, NC_000007.14:g.35318758_35318768dup, NC_000007.14:g.35318757_35318768dup, NC_000007.14:g.35318756_35318768dup, NC_000007.14:g.35318755_35318768dup, NC_000007.14:g.35318754_35318768dup, NC_000007.14:g.35318753_35318768dup, NC_000007.14:g.35318752_35318768dup, NC_000007.14:g.35318751_35318768dup, NC_000007.14:g.35318750_35318768dup, NC_000007.14:g.35318749_35318768dup, NC_000007.14:g.35318748_35318768dup, NC_000007.14:g.35318747_35318768dup, NC_000007.14:g.35318746_35318768dup, NC_000007.14:g.35318745_35318768dup, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.35318768_35318769insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358362_35358378del, NC_000007.13:g.35358365_35358378del, NC_000007.13:g.35358366_35358378del, NC_000007.13:g.35358367_35358378del, NC_000007.13:g.35358368_35358378del, NC_000007.13:g.35358369_35358378del, NC_000007.13:g.35358370_35358378del, NC_000007.13:g.35358371_35358378del, NC_000007.13:g.35358372_35358378del, NC_000007.13:g.35358373_35358378del, NC_000007.13:g.35358374_35358378del, NC_000007.13:g.35358375_35358378del, NC_000007.13:g.35358376_35358378del, NC_000007.13:g.35358377_35358378del, NC_000007.13:g.35358378del, NC_000007.13:g.35358378dup, NC_000007.13:g.35358377_35358378dup, NC_000007.13:g.35358376_35358378dup, NC_000007.13:g.35358375_35358378dup, NC_000007.13:g.35358374_35358378dup, NC_000007.13:g.35358373_35358378dup, NC_000007.13:g.35358372_35358378dup, NC_000007.13:g.35358371_35358378dup, NC_000007.13:g.35358370_35358378dup, NC_000007.13:g.35358369_35358378dup, NC_000007.13:g.35358368_35358378dup, NC_000007.13:g.35358367_35358378dup, NC_000007.13:g.35358366_35358378dup, NC_000007.13:g.35358365_35358378dup, NC_000007.13:g.35358364_35358378dup, NC_000007.13:g.35358363_35358378dup, NC_000007.13:g.35358362_35358378dup, NC_000007.13:g.35358361_35358378dup, NC_000007.13:g.35358360_35358378dup, NC_000007.13:g.35358359_35358378dup, NC_000007.13:g.35358358_35358378dup, NC_000007.13:g.35358357_35358378dup, NC_000007.13:g.35358356_35358378dup, NC_000007.13:g.35358355_35358378dup, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35358378_35358379insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1491178927 has merged into rs3999942 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:35338896
(GRCh38)
7:35378506
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35338877:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
GTGT=0.3936/1971
(1000Genomes)
- HGVS:
NC_000007.14:g.35338878GT[9], NC_000007.14:g.35338878GT[10], NC_000007.14:g.35338878GT[11], NC_000007.14:g.35338878GT[12], NC_000007.14:g.35338878GT[13], NC_000007.14:g.35338878GT[15], NC_000007.14:g.35338878GT[16], NC_000007.14:g.35338878GT[17], NC_000007.14:g.35338878GT[18], NC_000007.14:g.35338878GT[19], NC_000007.14:g.35338878GT[20], NC_000007.14:g.35338878GT[21], NC_000007.14:g.35338878GT[22], NC_000007.14:g.35338878GT[23], NC_000007.14:g.35338878GT[24], NC_000007.14:g.35338878GT[25], NC_000007.13:g.35378488GT[9], NC_000007.13:g.35378488GT[10], NC_000007.13:g.35378488GT[11], NC_000007.13:g.35378488GT[12], NC_000007.13:g.35378488GT[13], NC_000007.13:g.35378488GT[15], NC_000007.13:g.35378488GT[16], NC_000007.13:g.35378488GT[17], NC_000007.13:g.35378488GT[18], NC_000007.13:g.35378488GT[19], NC_000007.13:g.35378488GT[20], NC_000007.13:g.35378488GT[21], NC_000007.13:g.35378488GT[22], NC_000007.13:g.35378488GT[23], NC_000007.13:g.35378488GT[24], NC_000007.13:g.35378488GT[25]
10.
rs1491161470 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 7:35344847
(GRCh38)
7:35384457
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35344844:ACAC:AC
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAC=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
11.
rs1491093049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATATATGTGTTATATATTATATATAATATAT
[Show Flanks]
- Chromosome:
- 7:35311866
(GRCh38)
7:35351478
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35311866:TATATATTATATATAATATATTATATATGTGTTATATATTATATATAATATAT:TATATATTATATATAATATATTATATATGTGTTATATATTATATATAATATATTATATATGTGTTATATATTATATATAATATAT
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
TATATATTATATATAATATATTATATATGTGT=0.00004/1
(TOMMO)
- HGVS:
12.
rs1491054439 has merged into rs3051769 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:35325423
(GRCh38)
7:35365033
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35325411:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2316/1160
(1000Genomes)
- HGVS:
NC_000007.14:g.35325423_35325426del, NC_000007.14:g.35325424_35325426del, NC_000007.14:g.35325425_35325426del, NC_000007.14:g.35325426del, NC_000007.14:g.35325426dup, NC_000007.14:g.35325425_35325426dup, NC_000007.14:g.35325424_35325426dup, NC_000007.14:g.35325423_35325426dup, NC_000007.14:g.35325421_35325426dup, NC_000007.14:g.35325420_35325426dup, NC_000007.14:g.35325417_35325426dup, NC_000007.13:g.35365033_35365036del, NC_000007.13:g.35365034_35365036del, NC_000007.13:g.35365035_35365036del, NC_000007.13:g.35365036del, NC_000007.13:g.35365036dup, NC_000007.13:g.35365035_35365036dup, NC_000007.13:g.35365034_35365036dup, NC_000007.13:g.35365033_35365036dup, NC_000007.13:g.35365031_35365036dup, NC_000007.13:g.35365030_35365036dup, NC_000007.13:g.35365027_35365036dup
13.
rs1491002533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:35329133
(GRCh38)
7:35368743
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35329132:G:A,NC_000007.14:35329132:G:C
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490916527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:35315144
(GRCh38)
7:35354755
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35315143:A:C
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490734450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:35370398
(GRCh38)
7:35410008
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35370397:T:G
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000306/5
(
ALFA)
G=0.000223/1
(Estonian)
G=0.000235/33
(GnomAD)
G=0.000625/4
(1000Genomes)
T=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1490721654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 7:35359520
(GRCh38)
7:35399130
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35359519:T:A,NC_000007.14:35359519:T:C
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0./0
(GnomAD)
C=0.000008/2
(TOPMED)
C=0.000106/2
(TOMMO)
C=0.000342/1
(KOREAN)
- HGVS:
19.
rs1490643096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:35352573
(GRCh38)
7:35392183
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35352572:A:G
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490587130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:35321976
(GRCh38)
7:35361586
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35321975:A:G
- Gene:
- LOC401324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000038/10
(TOPMED)
G=0.000156/1
(1000Genomes)
G=0.000342/1
(KOREAN)
- HGVS: