Links from Gene
Items: 1 to 20 of 12349
1.
rs1491565585 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 3:9823423
(GRCh38)
3:9865108
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9823423::TA
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TA=0.000084/1
(
ALFA)
TA=0.000159/22
(GnomAD)
- HGVS:
6.
rs1491467975 has merged into rs1159841703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:9802247
(GRCh38)
3:9843931
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9802237:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARPC4 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.9802247_9802261del, NC_000003.12:g.9802249_9802261del, NC_000003.12:g.9802250_9802261del, NC_000003.12:g.9802251_9802261del, NC_000003.12:g.9802252_9802261del, NC_000003.12:g.9802253_9802261del, NC_000003.12:g.9802254_9802261del, NC_000003.12:g.9802255_9802261del, NC_000003.12:g.9802256_9802261del, NC_000003.12:g.9802257_9802261del, NC_000003.12:g.9802258_9802261del, NC_000003.12:g.9802259_9802261del, NC_000003.12:g.9802260_9802261del, NC_000003.12:g.9802261del, NC_000003.12:g.9802261dup, NC_000003.12:g.9802260_9802261dup, NC_000003.12:g.9802259_9802261dup, NC_000003.12:g.9802258_9802261dup, NC_000003.12:g.9802257_9802261dup, NC_000003.12:g.9802256_9802261dup, NC_000003.12:g.9802255_9802261dup, NC_000003.12:g.9802249_9802261dup, NC_000003.12:g.9802248_9802261dup, NC_000003.12:g.9802261_9802262insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.9843931_9843945del, NC_000003.11:g.9843933_9843945del, NC_000003.11:g.9843934_9843945del, NC_000003.11:g.9843935_9843945del, NC_000003.11:g.9843936_9843945del, NC_000003.11:g.9843937_9843945del, NC_000003.11:g.9843938_9843945del, NC_000003.11:g.9843939_9843945del, NC_000003.11:g.9843940_9843945del, NC_000003.11:g.9843941_9843945del, NC_000003.11:g.9843942_9843945del, NC_000003.11:g.9843943_9843945del, NC_000003.11:g.9843944_9843945del, NC_000003.11:g.9843945del, NC_000003.11:g.9843945dup, NC_000003.11:g.9843944_9843945dup, NC_000003.11:g.9843943_9843945dup, NC_000003.11:g.9843942_9843945dup, NC_000003.11:g.9843941_9843945dup, NC_000003.11:g.9843940_9843945dup, NC_000003.11:g.9843939_9843945dup, NC_000003.11:g.9843933_9843945dup, NC_000003.11:g.9843932_9843945dup, NC_000003.11:g.9843945_9843946insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
8.
rs1491392514 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:9808205
(GRCh38)
3:9849889
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9808204:CT:
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000098/11
(GnomAD)
- HGVS:
10.
rs1491372348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAT
[Show Flanks]
- Chromosome:
- 3:9822773
(GRCh38)
3:9864458
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9822773:TAT:TATTAT
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATTAT=0./0
(
ALFA)
TAT=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491370416 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:9802389
(GRCh38)
3:9844074
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9802389:C:CC
- Gene:
- ARPC4 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
12.
rs1491298661 has merged into rs34646268 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:9832090
(GRCh38)
3:9873774
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9832080:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.9832090_9832102del, NC_000003.12:g.9832093_9832102del, NC_000003.12:g.9832094_9832102del, NC_000003.12:g.9832095_9832102del, NC_000003.12:g.9832096_9832102del, NC_000003.12:g.9832097_9832102del, NC_000003.12:g.9832098_9832102del, NC_000003.12:g.9832099_9832102del, NC_000003.12:g.9832100_9832102del, NC_000003.12:g.9832101_9832102del, NC_000003.12:g.9832102del, NC_000003.12:g.9832102dup, NC_000003.12:g.9832101_9832102dup, NC_000003.12:g.9832100_9832102dup, NC_000003.12:g.9832099_9832102dup, NC_000003.12:g.9832098_9832102dup, NC_000003.12:g.9832097_9832102dup, NC_000003.12:g.9832096_9832102dup, NC_000003.12:g.9832095_9832102dup, NC_000003.12:g.9832094_9832102dup, NC_000003.12:g.9832093_9832102dup, NC_000003.12:g.9832087_9832102dup, NC_000003.11:g.9873774_9873786del, NC_000003.11:g.9873777_9873786del, NC_000003.11:g.9873778_9873786del, NC_000003.11:g.9873779_9873786del, NC_000003.11:g.9873780_9873786del, NC_000003.11:g.9873781_9873786del, NC_000003.11:g.9873782_9873786del, NC_000003.11:g.9873783_9873786del, NC_000003.11:g.9873784_9873786del, NC_000003.11:g.9873785_9873786del, NC_000003.11:g.9873786del, NC_000003.11:g.9873786dup, NC_000003.11:g.9873785_9873786dup, NC_000003.11:g.9873784_9873786dup, NC_000003.11:g.9873783_9873786dup, NC_000003.11:g.9873782_9873786dup, NC_000003.11:g.9873781_9873786dup, NC_000003.11:g.9873780_9873786dup, NC_000003.11:g.9873779_9873786dup, NC_000003.11:g.9873778_9873786dup, NC_000003.11:g.9873777_9873786dup, NC_000003.11:g.9873771_9873786dup
13.
rs1491289883 has merged into rs1207021257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,ATAT,ATATATAT,ATATATATATAT,ATATATATATATAT
[Show Flanks]
- Chromosome:
- 3:9822781
(GRCh38)
3:9864465
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9822772:ATATATATATATAT:ATATATAT,NC_000003.12:9822772:ATATATATATATAT:ATATATATATAT,NC_000003.12:9822772:ATATATATATATAT:ATATATATATATATAT,NC_000003.12:9822772:ATATATATATATAT:ATATATATATATATATATAT,NC_000003.12:9822772:ATATATATATATAT:ATATATATATATATATATATAT
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
AT=0.001667/1
(NorthernSweden)
AT=0.005839/98
(TOMMO)
- HGVS:
15.
rs1491252534 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 3:9822748
(GRCh38)
3:9864432
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9822747:AA:
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000283/37
(GnomAD)
- HGVS:
16.
rs1491233772 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CCCTT,CCCTTT,CCCTTTTTTTT,CCT,CCTT,CCTTT,CCTTTT,CCTTTTT,CCTTTTTTTTTT,CT,CTCTT,CTT,CTTT,CTTTT,CTTTTT,CTTTTTT,CTTTTTTT,CTTTTTTTTT,CTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:9808205
(GRCh38)
3:9849890
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9808205::CCCTT,NC_000003.12:9808205::CCCTTT,NC_000003.12:9808205::CCCTTTTTTTT,NC_000003.12:9808205::CCT,NC_000003.12:9808205::CCTT,NC_000003.12:9808205::CCTTT,NC_000003.12:9808205::CCTTTT,NC_000003.12:9808205::CCTTTTT,NC_000003.12:9808205::CCTTTTTTTTTT,NC_000003.12:9808205::CT,NC_000003.12:9808205::CTCTT,NC_000003.12:9808205::CTT,NC_000003.12:9808205::CTTT,NC_000003.12:9808205::CTTTT,NC_000003.12:9808205::CTTTTT,NC_000003.12:9808205::CTTTTTT,NC_000003.12:9808205::CTTTTTTT,NC_000003.12:9808205::CTTTTTTTTT,NC_000003.12:9808205::CTTTTTTTTTT
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CT=0./0
(
ALFA)
CCCTTTTTTTT=0./0
(Korea1K)
- HGVS:
NC_000003.12:g.9808205_9808206insCCCTT, NC_000003.12:g.9808205_9808206insCCCTTT, NC_000003.12:g.9808205_9808206insCCCTTTTTTTT, NC_000003.12:g.9808205_9808206insCCT, NC_000003.12:g.9808205_9808206insCCTT, NC_000003.12:g.9808205_9808206insCCTTT, NC_000003.12:g.9808205_9808206insCCTTTT, NC_000003.12:g.9808205_9808206insCCTTTTT, NC_000003.12:g.9808205_9808206insCCTTTTTTTTTT, NC_000003.12:g.9808205_9808206insCT, NC_000003.12:g.9808205_9808206insCTCTT, NC_000003.12:g.9808205_9808206insCTT, NC_000003.12:g.9808205_9808206insCTTT, NC_000003.12:g.9808205_9808206insCTTTT, NC_000003.12:g.9808205_9808206insCTTTTT, NC_000003.12:g.9808205_9808206insCTTTTTT, NC_000003.12:g.9808205_9808206insCTTTTTTT, NC_000003.12:g.9808205_9808206insCTTTTTTTTT, NC_000003.12:g.9808205_9808206insCTTTTTTTTTT, NC_000003.11:g.9849889_9849890insCCCTT, NC_000003.11:g.9849889_9849890insCCCTTT, NC_000003.11:g.9849889_9849890insCCCTTTTTTTT, NC_000003.11:g.9849889_9849890insCCT, NC_000003.11:g.9849889_9849890insCCTT, NC_000003.11:g.9849889_9849890insCCTTT, NC_000003.11:g.9849889_9849890insCCTTTT, NC_000003.11:g.9849889_9849890insCCTTTTT, NC_000003.11:g.9849889_9849890insCCTTTTTTTTTT, NC_000003.11:g.9849889_9849890insCT, NC_000003.11:g.9849889_9849890insCTCTT, NC_000003.11:g.9849889_9849890insCTT, NC_000003.11:g.9849889_9849890insCTTT, NC_000003.11:g.9849889_9849890insCTTTT, NC_000003.11:g.9849889_9849890insCTTTTT, NC_000003.11:g.9849889_9849890insCTTTTTT, NC_000003.11:g.9849889_9849890insCTTTTTTT, NC_000003.11:g.9849889_9849890insCTTTTTTTTT, NC_000003.11:g.9849889_9849890insCTTTTTTTTTT
17.
rs1491202116 has merged into rs36060940 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:9826733
(GRCh38)
3:9868417
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9826725:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.9826733_9826748del, NC_000003.12:g.9826736_9826748del, NC_000003.12:g.9826737_9826748del, NC_000003.12:g.9826738_9826748del, NC_000003.12:g.9826739_9826748del, NC_000003.12:g.9826741_9826748del, NC_000003.12:g.9826742_9826748del, NC_000003.12:g.9826743_9826748del, NC_000003.12:g.9826744_9826748del, NC_000003.12:g.9826745_9826748del, NC_000003.12:g.9826746_9826748del, NC_000003.12:g.9826747_9826748del, NC_000003.12:g.9826748del, NC_000003.12:g.9826748dup, NC_000003.12:g.9826747_9826748dup, NC_000003.12:g.9826746_9826748dup, NC_000003.12:g.9826745_9826748dup, NC_000003.12:g.9826744_9826748dup, NC_000003.12:g.9826743_9826748dup, NC_000003.12:g.9826740_9826748dup, NC_000003.12:g.9826739_9826748dup, NC_000003.12:g.9826748_9826749insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.9826748_9826749insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.9826726_9826748A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.9868417_9868432del, NC_000003.11:g.9868420_9868432del, NC_000003.11:g.9868421_9868432del, NC_000003.11:g.9868422_9868432del, NC_000003.11:g.9868423_9868432del, NC_000003.11:g.9868425_9868432del, NC_000003.11:g.9868426_9868432del, NC_000003.11:g.9868427_9868432del, NC_000003.11:g.9868428_9868432del, NC_000003.11:g.9868429_9868432del, NC_000003.11:g.9868430_9868432del, NC_000003.11:g.9868431_9868432del, NC_000003.11:g.9868432del, NC_000003.11:g.9868432dup, NC_000003.11:g.9868431_9868432dup, NC_000003.11:g.9868430_9868432dup, NC_000003.11:g.9868429_9868432dup, NC_000003.11:g.9868428_9868432dup, NC_000003.11:g.9868427_9868432dup, NC_000003.11:g.9868424_9868432dup, NC_000003.11:g.9868423_9868432dup, NC_000003.11:g.9868432_9868433insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.9868432_9868433insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.9868410_9868432A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
18.
rs1491139541 has merged into rs35119497 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:9828152
(GRCh38)
3:9869836
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9828141:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.368708/1421
(ALSPAC)
- HGVS:
NC_000003.12:g.9828152_9828162del, NC_000003.12:g.9828153_9828162del, NC_000003.12:g.9828155_9828162del, NC_000003.12:g.9828156_9828162del, NC_000003.12:g.9828157_9828162del, NC_000003.12:g.9828158_9828162del, NC_000003.12:g.9828159_9828162del, NC_000003.12:g.9828160_9828162del, NC_000003.12:g.9828161_9828162del, NC_000003.12:g.9828162del, NC_000003.12:g.9828162dup, NC_000003.12:g.9828161_9828162dup, NC_000003.12:g.9828160_9828162dup, NC_000003.12:g.9828159_9828162dup, NC_000003.12:g.9828158_9828162dup, NC_000003.11:g.9869836_9869846del, NC_000003.11:g.9869837_9869846del, NC_000003.11:g.9869839_9869846del, NC_000003.11:g.9869840_9869846del, NC_000003.11:g.9869841_9869846del, NC_000003.11:g.9869842_9869846del, NC_000003.11:g.9869843_9869846del, NC_000003.11:g.9869844_9869846del, NC_000003.11:g.9869845_9869846del, NC_000003.11:g.9869846del, NC_000003.11:g.9869846dup, NC_000003.11:g.9869845_9869846dup, NC_000003.11:g.9869844_9869846dup, NC_000003.11:g.9869843_9869846dup, NC_000003.11:g.9869842_9869846dup
19.
rs1491075048 has merged into rs55895905 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:9815253
(GRCh38)
3:9856937
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9815241:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:9815241:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:9815241:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:9815241:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:9815241:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:9815241:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:9815241:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:9815241:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TTLL3 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.4379/2193
(1000Genomes)
- HGVS:
NC_000003.12:g.9815253_9815255del, NC_000003.12:g.9815254_9815255del, NC_000003.12:g.9815255del, NC_000003.12:g.9815255dup, NC_000003.12:g.9815254_9815255dup, NC_000003.12:g.9815253_9815255dup, NC_000003.12:g.9815252_9815255dup, NC_000003.12:g.9815246_9815255dup, NC_000003.11:g.9856937_9856939del, NC_000003.11:g.9856938_9856939del, NC_000003.11:g.9856939del, NC_000003.11:g.9856939dup, NC_000003.11:g.9856938_9856939dup, NC_000003.11:g.9856937_9856939dup, NC_000003.11:g.9856936_9856939dup, NC_000003.11:g.9856930_9856939dup
20.
rs1491019787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:9802684
(GRCh38)
3:9844368
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9802682:TCT:T
- Gene:
- ARPC4 (Varview), ARPC4-TTLL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.01863/221
(
ALFA)
-=0.00106/17
(TOMMO)
-=0.03061/196
(1000Genomes)
-=0.03787/69
(Korea1K)
-=0.04113/2724
(GnomAD)
- HGVS: