Links from Gene
Items: 1 to 20 of 20105
1.
rs1491574997 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:9904151
(GRCh38)
19:10014828
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9904151::G
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000391/48
(GnomAD)
G=0.000602/10
(TOMMO)
G=0.002183/4
(Korea1K)
- HGVS:
2.
rs1491570464 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:9860476
(GRCh38)
19:9971153
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9860476::A
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00032/24
(GnomAD)
- HGVS:
4.
rs1491513689 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 19:9884276
(GRCh38)
19:9994952
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9884275:TA:
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.0013/12
(GnomAD)
- HGVS:
5.
rs1491508452 has merged into rs34756498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 19:9915250
(GRCh38)
19:10025926
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.2935/172
(NorthernSweden)
-=0.4/16
(GENOME_DK)
TT=0.4986/2497
(1000Genomes)
- HGVS:
NC_000019.10:g.9915250_9915255del, NC_000019.10:g.9915251_9915255del, NC_000019.10:g.9915252_9915255del, NC_000019.10:g.9915253_9915255del, NC_000019.10:g.9915254_9915255del, NC_000019.10:g.9915255del, NC_000019.10:g.9915255dup, NC_000019.10:g.9915254_9915255dup, NC_000019.9:g.10025926_10025931del, NC_000019.9:g.10025927_10025931del, NC_000019.9:g.10025928_10025931del, NC_000019.9:g.10025929_10025931del, NC_000019.9:g.10025930_10025931del, NC_000019.9:g.10025931del, NC_000019.9:g.10025931dup, NC_000019.9:g.10025930_10025931dup
6.
rs1491500609 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TGGGCATG,TTA
[Show Flanks]
- Chromosome:
- 19:9919812
(GRCh38)
19:10030489
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9919812::TGGGCATG,NC_000019.10:9919812::TTA
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
TGGGCATG=0.000008/1
(GnomAD)
- HGVS:
7.
rs1491488425 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:9878382
(GRCh38)
19:9989059
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9878382::C
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00059/7
(
ALFA)
C=0.02575/76
(GnomAD)
- HGVS:
8.
rs1491457047 has merged into rs56281493 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 19:9904176
(GRCh38)
19:10014852
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:9904152:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.2135/823
(ALSPAC)
- HGVS:
NC_000019.10:g.9904154GT[11], NC_000019.10:g.9904154GT[12], NC_000019.10:g.9904154GT[13], NC_000019.10:g.9904154GT[14], NC_000019.10:g.9904154GT[15], NC_000019.10:g.9904154GT[16], NC_000019.10:g.9904154GT[17], NC_000019.10:g.9904154GT[18], NC_000019.10:g.9904154GT[19], NC_000019.10:g.9904154GT[20], NC_000019.10:g.9904154GT[21], NC_000019.10:g.9904154GT[22], NC_000019.10:g.9904154GT[23], NC_000019.10:g.9904154GT[24], NC_000019.10:g.9904154GT[25], NC_000019.10:g.9904154GT[27], NC_000019.10:g.9904154GT[28], NC_000019.10:g.9904154GT[29], NC_000019.10:g.9904154GT[30], NC_000019.10:g.9904154GT[31], NC_000019.10:g.9904154GT[32], NC_000019.10:g.9904154GT[33], NC_000019.10:g.9904154GT[34], NC_000019.10:g.9904154GT[35], NC_000019.9:g.10014830GT[11], NC_000019.9:g.10014830GT[12], NC_000019.9:g.10014830GT[13], NC_000019.9:g.10014830GT[14], NC_000019.9:g.10014830GT[15], NC_000019.9:g.10014830GT[16], NC_000019.9:g.10014830GT[17], NC_000019.9:g.10014830GT[18], NC_000019.9:g.10014830GT[19], NC_000019.9:g.10014830GT[20], NC_000019.9:g.10014830GT[21], NC_000019.9:g.10014830GT[22], NC_000019.9:g.10014830GT[23], NC_000019.9:g.10014830GT[24], NC_000019.9:g.10014830GT[25], NC_000019.9:g.10014830GT[27], NC_000019.9:g.10014830GT[28], NC_000019.9:g.10014830GT[29], NC_000019.9:g.10014830GT[30], NC_000019.9:g.10014830GT[31], NC_000019.9:g.10014830GT[32], NC_000019.9:g.10014830GT[33], NC_000019.9:g.10014830GT[34], NC_000019.9:g.10014830GT[35]
10.
rs1491434959 has merged into rs4044581 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:9884289
(GRCh38)
19:9994965
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9884276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.1563/783
(1000Genomes)
- HGVS:
NC_000019.10:g.9884289_9884295del, NC_000019.10:g.9884290_9884295del, NC_000019.10:g.9884291_9884295del, NC_000019.10:g.9884292_9884295del, NC_000019.10:g.9884293_9884295del, NC_000019.10:g.9884294_9884295del, NC_000019.10:g.9884295del, NC_000019.10:g.9884295dup, NC_000019.10:g.9884293_9884295dup, NC_000019.10:g.9884292_9884295dup, NC_000019.10:g.9884285_9884295dup, NC_000019.9:g.9994965_9994971del, NC_000019.9:g.9994966_9994971del, NC_000019.9:g.9994967_9994971del, NC_000019.9:g.9994968_9994971del, NC_000019.9:g.9994969_9994971del, NC_000019.9:g.9994970_9994971del, NC_000019.9:g.9994971del, NC_000019.9:g.9994971dup, NC_000019.9:g.9994969_9994971dup, NC_000019.9:g.9994968_9994971dup, NC_000019.9:g.9994961_9994971dup
11.
rs1491432632 has merged into rs71188843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTATTTATTT>-,ATTT,ATTTATTT,ATTTATTTATTTATTT,ATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTT
[Show Flanks]
- Chromosome:
- 19:9859321
(GRCh38)
19:9969997
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9859305:TTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTT,NC_000019.10:9859305:TTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTT,NC_000019.10:9859305:TTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTT,NC_000019.10:9859305:TTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTT,NC_000019.10:9859305:TTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000019.10:9859305:TTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000019.10:9859305:TTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000019.10:9859305:TTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTATTTATTTATTTATTT=0./0
(
ALFA)
TTTA=0.103/72
(1000Genomes)
- HGVS:
NC_000019.10:g.9859309ATTT[3], NC_000019.10:g.9859309ATTT[4], NC_000019.10:g.9859309ATTT[5], NC_000019.10:g.9859309ATTT[7], NC_000019.10:g.9859309ATTT[8], NC_000019.10:g.9859309ATTT[9], NC_000019.10:g.9859309ATTT[10], NC_000019.10:g.9859309ATTT[11], NC_000019.9:g.9969985ATTT[3], NC_000019.9:g.9969985ATTT[4], NC_000019.9:g.9969985ATTT[5], NC_000019.9:g.9969985ATTT[7], NC_000019.9:g.9969985ATTT[8], NC_000019.9:g.9969985ATTT[9], NC_000019.9:g.9969985ATTT[10], NC_000019.9:g.9969985ATTT[11]
12.
rs1491422777 has merged into rs34756498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 19:9915250
(GRCh38)
19:10025926
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9915239:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.2935/172
(NorthernSweden)
-=0.4/16
(GENOME_DK)
TT=0.4986/2497
(1000Genomes)
- HGVS:
NC_000019.10:g.9915250_9915255del, NC_000019.10:g.9915251_9915255del, NC_000019.10:g.9915252_9915255del, NC_000019.10:g.9915253_9915255del, NC_000019.10:g.9915254_9915255del, NC_000019.10:g.9915255del, NC_000019.10:g.9915255dup, NC_000019.10:g.9915254_9915255dup, NC_000019.9:g.10025926_10025931del, NC_000019.9:g.10025927_10025931del, NC_000019.9:g.10025928_10025931del, NC_000019.9:g.10025929_10025931del, NC_000019.9:g.10025930_10025931del, NC_000019.9:g.10025931del, NC_000019.9:g.10025931dup, NC_000019.9:g.10025930_10025931dup
13.
rs1491415691 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:9919812
(GRCh38)
19:10030488
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9919811:TG:
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.001349/16
(
ALFA)
-=0.000154/19
(GnomAD)
- HGVS:
14.
rs1491405812 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:9877831
(GRCh38)
19:9988507
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9877830:AT:
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
- HGVS:
15.
rs1491402632 has merged into rs532183134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 19:9901233
(GRCh38)
19:10011909
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9901222:AAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:9901222:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9901222:AAAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.02336/116
(1000Genomes)
- HGVS:
16.
rs1491401888 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT
[Show Flanks]
- Chromosome:
- 19:9904152
(GRCh38)
19:10014828
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9904150:TTT:T,NC_000019.10:9904150:TTT:TTTT,NC_000019.10:9904150:TTT:TTTTT
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
17.
rs1491368713 has merged into rs1166738814 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:9924418
(GRCh38)
19:10035094
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9924406:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.9924418_9924433del, NC_000019.10:g.9924419_9924433del, NC_000019.10:g.9924420_9924433del, NC_000019.10:g.9924421_9924433del, NC_000019.10:g.9924422_9924433del, NC_000019.10:g.9924423_9924433del, NC_000019.10:g.9924424_9924433del, NC_000019.10:g.9924425_9924433del, NC_000019.10:g.9924426_9924433del, NC_000019.10:g.9924427_9924433del, NC_000019.10:g.9924428_9924433del, NC_000019.10:g.9924429_9924433del, NC_000019.10:g.9924430_9924433del, NC_000019.10:g.9924431_9924433del, NC_000019.10:g.9924432_9924433del, NC_000019.10:g.9924433del, NC_000019.10:g.9924433dup, NC_000019.10:g.9924432_9924433dup, NC_000019.10:g.9924431_9924433dup, NC_000019.9:g.10035094_10035109del, NC_000019.9:g.10035095_10035109del, NC_000019.9:g.10035096_10035109del, NC_000019.9:g.10035097_10035109del, NC_000019.9:g.10035098_10035109del, NC_000019.9:g.10035099_10035109del, NC_000019.9:g.10035100_10035109del, NC_000019.9:g.10035101_10035109del, NC_000019.9:g.10035102_10035109del, NC_000019.9:g.10035103_10035109del, NC_000019.9:g.10035104_10035109del, NC_000019.9:g.10035105_10035109del, NC_000019.9:g.10035106_10035109del, NC_000019.9:g.10035107_10035109del, NC_000019.9:g.10035108_10035109del, NC_000019.9:g.10035109del, NC_000019.9:g.10035109dup, NC_000019.9:g.10035108_10035109dup, NC_000019.9:g.10035107_10035109dup
18.
rs1491366680 has merged into rs35308457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA
[Show Flanks]
- Chromosome:
- 19:9922281
(GRCh38)
19:10032957
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9922273:ACACACACACACACACACACA:ACACACA,NC_000019.10:9922273:ACACACACACACACACACACA:ACACACACACACACA,NC_000019.10:9922273:ACACACACACACACACACACA:ACACACACACACACACA,NC_000019.10:9922273:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000019.10:9922273:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000019.10:9922273:ACACACACACACACACACACA:ACACACACACACACACACACACACA
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
AC=0.277022/73325
(TOPMED)
AC=0.313333/188
(NorthernSweden)
AC=0.325/13
(GENOME_DK)
AC=0.457547/97
(Vietnamese)
- HGVS:
NC_000019.10:g.9922275CA[3], NC_000019.10:g.9922275CA[7], NC_000019.10:g.9922275CA[8], NC_000019.10:g.9922275CA[9], NC_000019.10:g.9922275CA[11], NC_000019.10:g.9922275CA[12], NC_000019.9:g.10032951CA[3], NC_000019.9:g.10032951CA[7], NC_000019.9:g.10032951CA[8], NC_000019.9:g.10032951CA[9], NC_000019.9:g.10032951CA[11], NC_000019.9:g.10032951CA[12]
20.
rs1491349559 has merged into rs34941045 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:9871584
(GRCh38)
19:9982260
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9871573:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- OLFM2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AA=0.4643/2325
(1000Genomes)
- HGVS:
NC_000019.10:g.9871584_9871591del, NC_000019.10:g.9871586_9871591del, NC_000019.10:g.9871587_9871591del, NC_000019.10:g.9871588_9871591del, NC_000019.10:g.9871589_9871591del, NC_000019.10:g.9871590_9871591del, NC_000019.10:g.9871591del, NC_000019.10:g.9871591dup, NC_000019.10:g.9871590_9871591dup, NC_000019.9:g.9982260_9982267del, NC_000019.9:g.9982262_9982267del, NC_000019.9:g.9982263_9982267del, NC_000019.9:g.9982264_9982267del, NC_000019.9:g.9982265_9982267del, NC_000019.9:g.9982266_9982267del, NC_000019.9:g.9982267del, NC_000019.9:g.9982267dup, NC_000019.9:g.9982266_9982267dup