Links from Gene
Items: 1 to 20 of 4865
1.
rs1491549830 has merged into rs548981114 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 6:36857037
(GRCh38)
6:36824813
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36857033:TTTTTTT:TTT,NC_000006.12:36857033:TTTTTTT:TTTTTT,NC_000006.12:36857033:TTTTTTT:TTTTTTTT
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.00359/18
(1000Genomes)
-=0.01869/4
(Vietnamese)
-=0.02402/44
(Korea1K)
- HGVS:
2.
rs1491447549 has merged into rs71880744 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 6:36859825
(GRCh38)
6:36827601
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:36859811:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.082/316
(ALSPAC)
- HGVS:
NC_000006.12:g.36859813GT[6], NC_000006.12:g.36859813GT[7], NC_000006.12:g.36859813GT[8], NC_000006.12:g.36859813GT[9], NC_000006.12:g.36859813GT[10], NC_000006.12:g.36859813GT[11], NC_000006.12:g.36859813GT[12], NC_000006.12:g.36859813GT[13], NC_000006.12:g.36859813GT[14], NC_000006.12:g.36859813GT[15], NC_000006.12:g.36859813GT[17], NC_000006.12:g.36859813GT[18], NC_000006.12:g.36859813GT[19], NC_000006.12:g.36859813GT[20], NC_000006.12:g.36859813GT[21], NC_000006.12:g.36859813GT[22], NC_000006.12:g.36859813GT[23], NC_000006.12:g.36859813GT[24], NC_000006.12:g.36859813GT[25], NC_000006.12:g.36859813GT[26], NC_000006.12:g.36859813GT[27], NC_000006.12:g.36859813GT[28], NC_000006.12:g.36859813GT[29], NC_000006.12:g.36859813GT[30], NC_000006.12:g.36859813GT[31], NC_000006.12:g.36859813GT[32], NC_000006.12:g.36859813GT[33], NC_000006.12:g.36859813GT[34], NC_000006.12:g.36859813GT[35], NC_000006.12:g.36859813GT[36], NC_000006.12:g.36859813GT[37], NC_000006.12:g.36859813GT[38], NC_000006.11:g.36827589GT[6], NC_000006.11:g.36827589GT[7], NC_000006.11:g.36827589GT[8], NC_000006.11:g.36827589GT[9], NC_000006.11:g.36827589GT[10], NC_000006.11:g.36827589GT[11], NC_000006.11:g.36827589GT[12], NC_000006.11:g.36827589GT[13], NC_000006.11:g.36827589GT[14], NC_000006.11:g.36827589GT[15], NC_000006.11:g.36827589GT[17], NC_000006.11:g.36827589GT[18], NC_000006.11:g.36827589GT[19], NC_000006.11:g.36827589GT[20], NC_000006.11:g.36827589GT[21], NC_000006.11:g.36827589GT[22], NC_000006.11:g.36827589GT[23], NC_000006.11:g.36827589GT[24], NC_000006.11:g.36827589GT[25], NC_000006.11:g.36827589GT[26], NC_000006.11:g.36827589GT[27], NC_000006.11:g.36827589GT[28], NC_000006.11:g.36827589GT[29], NC_000006.11:g.36827589GT[30], NC_000006.11:g.36827589GT[31], NC_000006.11:g.36827589GT[32], NC_000006.11:g.36827589GT[33], NC_000006.11:g.36827589GT[34], NC_000006.11:g.36827589GT[35], NC_000006.11:g.36827589GT[36], NC_000006.11:g.36827589GT[37], NC_000006.11:g.36827589GT[38]
3.
rs1491433013 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:36871532
(GRCh38)
6:36839308
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36871526:TGTGTGT:TGTGT
- Gene:
- PPIL1 (Varview), C6orf89 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
4.
rs1491382454 has merged into rs36097489 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:36859435
(GRCh38)
6:36827211
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36859424:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000006.12:g.36859435_36859447del, NC_000006.12:g.36859437_36859447del, NC_000006.12:g.36859438_36859447del, NC_000006.12:g.36859441_36859447del, NC_000006.12:g.36859443_36859447del, NC_000006.12:g.36859444_36859447del, NC_000006.12:g.36859445_36859447del, NC_000006.12:g.36859446_36859447del, NC_000006.12:g.36859447del, NC_000006.12:g.36859447dup, NC_000006.12:g.36859446_36859447dup, NC_000006.12:g.36859445_36859447dup, NC_000006.12:g.36859444_36859447dup, NC_000006.12:g.36859443_36859447dup, NC_000006.12:g.36859442_36859447dup, NC_000006.12:g.36859441_36859447dup, NC_000006.12:g.36859440_36859447dup, NC_000006.12:g.36859439_36859447dup, NC_000006.11:g.36827211_36827223del, NC_000006.11:g.36827213_36827223del, NC_000006.11:g.36827214_36827223del, NC_000006.11:g.36827217_36827223del, NC_000006.11:g.36827219_36827223del, NC_000006.11:g.36827220_36827223del, NC_000006.11:g.36827221_36827223del, NC_000006.11:g.36827222_36827223del, NC_000006.11:g.36827223del, NC_000006.11:g.36827223dup, NC_000006.11:g.36827222_36827223dup, NC_000006.11:g.36827221_36827223dup, NC_000006.11:g.36827220_36827223dup, NC_000006.11:g.36827219_36827223dup, NC_000006.11:g.36827218_36827223dup, NC_000006.11:g.36827217_36827223dup, NC_000006.11:g.36827216_36827223dup, NC_000006.11:g.36827215_36827223dup
5.
rs1491367274 has merged into rs10585822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:36860775
(GRCh38)
6:36828551
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:36860763:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.1282/494
(ALSPAC)
-=0.3421/1713
(1000Genomes)
- HGVS:
NC_000006.12:g.36860775_36860781del, NC_000006.12:g.36860776_36860781del, NC_000006.12:g.36860777_36860781del, NC_000006.12:g.36860778_36860781del, NC_000006.12:g.36860779_36860781del, NC_000006.12:g.36860780_36860781del, NC_000006.12:g.36860781del, NC_000006.12:g.36860781dup, NC_000006.12:g.36860780_36860781dup, NC_000006.12:g.36860779_36860781dup, NC_000006.12:g.36860777_36860781dup, NC_000006.12:g.36860773_36860781dup, NC_000006.11:g.36828551_36828557del, NC_000006.11:g.36828552_36828557del, NC_000006.11:g.36828553_36828557del, NC_000006.11:g.36828554_36828557del, NC_000006.11:g.36828555_36828557del, NC_000006.11:g.36828556_36828557del, NC_000006.11:g.36828557del, NC_000006.11:g.36828557dup, NC_000006.11:g.36828556_36828557dup, NC_000006.11:g.36828555_36828557dup, NC_000006.11:g.36828553_36828557dup, NC_000006.11:g.36828549_36828557dup
6.
rs1491305327 has merged into rs370157244 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 6:36860450
(GRCh38)
6:36828226
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36860442:AAAAAAAAA:AAAAAAA,NC_000006.12:36860442:AAAAAAAAA:AAAAAAAA,NC_000006.12:36860442:AAAAAAAAA:AAAAAAAAAA,NC_000006.12:36860442:AAAAAAAAA:AAAAAAAAAAA
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.00007/1
(TOMMO)
A=0.0064/41
(1000Genomes)
- HGVS:
7.
rs1491300257 has merged into rs55772980 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:36861692
(GRCh38)
6:36829468
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36861680:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:36861680:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:36861680:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:36861680:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:36861680:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:36861680:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:36861680:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:36861680:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.36861692_36861695del, NC_000006.12:g.36861693_36861695del, NC_000006.12:g.36861694_36861695del, NC_000006.12:g.36861695del, NC_000006.12:g.36861695dup, NC_000006.12:g.36861694_36861695dup, NC_000006.12:g.36861693_36861695dup, NC_000006.12:g.36861681_36861695T[19]CTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.36829468_36829471del, NC_000006.11:g.36829469_36829471del, NC_000006.11:g.36829470_36829471del, NC_000006.11:g.36829471del, NC_000006.11:g.36829471dup, NC_000006.11:g.36829470_36829471dup, NC_000006.11:g.36829469_36829471dup, NC_000006.11:g.36829457_36829471T[19]CTTTTTTTTTTTTTTTTTTT[1]
9.
rs1491107282 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:36871527
(GRCh38)
6:36839304
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36871527::A
- Gene:
- PPIL1 (Varview), C6orf89 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490988878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:36865133
(GRCh38)
6:36832909
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36865132:T:C
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490912119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:36859028
(GRCh38)
6:36826804
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36859027:A:T
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490793950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:36871974
(GRCh38)
6:36839750
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36871973:C:A
- Gene:
- PPIL1 (Varview), C6orf89 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0005/1
(Korea1K)
- HGVS:
15.
rs1490594765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:36857816
(GRCh38)
6:36825592
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36857815:T:C
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
16.
rs1490434027 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 6:36864536
(GRCh38)
6:36832312
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36864532:CACAC:CAC
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490354820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 6:36862174
(GRCh38)
6:36829950
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36862173:T:A,NC_000006.12:36862173:T:C
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.13745/2244
(
ALFA)
C=0.03359/549
(TOMMO)
C=0.17532/513
(KOREAN)
- HGVS:
18.
rs1490160244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:36864596
(GRCh38)
6:36832372
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36864595:T:C
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490113800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:36863498
(GRCh38)
6:36831274
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36863497:T:C
- Gene:
- PPIL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489694524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:36872550
(GRCh38)
6:36840326
(GRCh37)
- Canonical SPDI:
- NC_000006.12:36872549:A:C
- Gene:
- PPIL1 (Varview), C6orf89 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: