Links from Gene
Items: 1 to 20 of 6302
1.
rs1491585112 has merged into rs5874408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:13279040
(GRCh38)
6:13279272
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4663/2335
(1000Genomes)
- HGVS:
NC_000006.12:g.13279040_13279046del, NC_000006.12:g.13279043_13279046del, NC_000006.12:g.13279044_13279046del, NC_000006.12:g.13279045_13279046del, NC_000006.12:g.13279046del, NC_000006.12:g.13279046dup, NC_000006.12:g.13279045_13279046dup, NC_000006.12:g.13279044_13279046dup, NC_000006.12:g.13279032_13279046dup, NC_000006.12:g.13279046_13279047insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.13279272_13279278del, NC_000006.11:g.13279275_13279278del, NC_000006.11:g.13279276_13279278del, NC_000006.11:g.13279277_13279278del, NC_000006.11:g.13279278del, NC_000006.11:g.13279278dup, NC_000006.11:g.13279277_13279278dup, NC_000006.11:g.13279276_13279278dup, NC_000006.11:g.13279264_13279278dup, NC_000006.11:g.13279278_13279279insTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491543156 has merged into rs10611107 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TA,TATA,TATATAGAGAGAGAGAGAGATACACGTATATATATATATATATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA
[Show Flanks]
- Chromosome:
- 6:13284591
(GRCh38)
6:13284823
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13284578:TATATATATATATATATA:TATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATAGAGAGAGAGAGAGATACACGTATATATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATATATATATA
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATA=0./0
(
ALFA)
TA=0.02737/41
(1000Genomes)
-=0.25/10
(GENOME_DK)
- HGVS:
NC_000006.12:g.13284579TA[6], NC_000006.12:g.13284579TA[7], NC_000006.12:g.13284579TA[8], NC_000006.12:g.13284579_13284596TA[9]GA[7]TACACGTATATATATATATATATATA[1], NC_000006.12:g.13284579TA[10], NC_000006.12:g.13284579TA[11], NC_000006.12:g.13284579TA[12], NC_000006.12:g.13284579TA[13], NC_000006.11:g.13284811TA[6], NC_000006.11:g.13284811TA[7], NC_000006.11:g.13284811TA[8], NC_000006.11:g.13284811_13284828TA[9]GA[7]TACACGTATATATATATATATATATA[1], NC_000006.11:g.13284811TA[10], NC_000006.11:g.13284811TA[11], NC_000006.11:g.13284811TA[12], NC_000006.11:g.13284811TA[13]
3.
rs1491424307 has merged into rs35677701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:13290732
(GRCh38)
6:13290964
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.036667/22
(NorthernSweden)
-=0.153155/767
(1000Genomes)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000006.12:g.13290732_13290738del, NC_000006.12:g.13290737_13290738del, NC_000006.12:g.13290738del, NC_000006.12:g.13290738dup, NC_000006.12:g.13290737_13290738dup, NC_000006.12:g.13290735_13290738dup, NC_000006.11:g.13290964_13290970del, NC_000006.11:g.13290969_13290970del, NC_000006.11:g.13290970del, NC_000006.11:g.13290970dup, NC_000006.11:g.13290969_13290970dup, NC_000006.11:g.13290967_13290970dup
4.
rs1491405120 has merged into rs58847683 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:13284532
(GRCh38)
6:13284764
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4269/2138
(1000Genomes)
- HGVS:
NC_000006.12:g.13284532_13284544del, NC_000006.12:g.13284533_13284544del, NC_000006.12:g.13284534_13284544del, NC_000006.12:g.13284535_13284544del, NC_000006.12:g.13284536_13284544del, NC_000006.12:g.13284537_13284544del, NC_000006.12:g.13284538_13284544del, NC_000006.12:g.13284539_13284544del, NC_000006.12:g.13284540_13284544del, NC_000006.12:g.13284541_13284544del, NC_000006.12:g.13284542_13284544del, NC_000006.12:g.13284543_13284544del, NC_000006.12:g.13284544del, NC_000006.12:g.13284544dup, NC_000006.12:g.13284543_13284544dup, NC_000006.12:g.13284542_13284544dup, NC_000006.12:g.13284541_13284544dup, NC_000006.12:g.13284540_13284544dup, NC_000006.12:g.13284539_13284544dup, NC_000006.12:g.13284538_13284544dup, NC_000006.12:g.13284537_13284544dup, NC_000006.12:g.13284536_13284544dup, NC_000006.12:g.13284535_13284544dup, NC_000006.12:g.13284534_13284544dup, NC_000006.12:g.13284532_13284544dup, NC_000006.12:g.13284526_13284544dup, NC_000006.12:g.13284524_13284544dup, NC_000006.11:g.13284764_13284776del, NC_000006.11:g.13284765_13284776del, NC_000006.11:g.13284766_13284776del, NC_000006.11:g.13284767_13284776del, NC_000006.11:g.13284768_13284776del, NC_000006.11:g.13284769_13284776del, NC_000006.11:g.13284770_13284776del, NC_000006.11:g.13284771_13284776del, NC_000006.11:g.13284772_13284776del, NC_000006.11:g.13284773_13284776del, NC_000006.11:g.13284774_13284776del, NC_000006.11:g.13284775_13284776del, NC_000006.11:g.13284776del, NC_000006.11:g.13284776dup, NC_000006.11:g.13284775_13284776dup, NC_000006.11:g.13284774_13284776dup, NC_000006.11:g.13284773_13284776dup, NC_000006.11:g.13284772_13284776dup, NC_000006.11:g.13284771_13284776dup, NC_000006.11:g.13284770_13284776dup, NC_000006.11:g.13284769_13284776dup, NC_000006.11:g.13284768_13284776dup, NC_000006.11:g.13284767_13284776dup, NC_000006.11:g.13284766_13284776dup, NC_000006.11:g.13284764_13284776dup, NC_000006.11:g.13284758_13284776dup, NC_000006.11:g.13284756_13284776dup
5.
rs1491344241 has merged into rs11372974 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:13278974
(GRCh38)
6:13279206
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4279/2143
(1000Genomes)
- HGVS:
NC_000006.12:g.13278974_13278977del, NC_000006.12:g.13278976_13278977del, NC_000006.12:g.13278977del, NC_000006.12:g.13278977dup, NC_000006.12:g.13278976_13278977dup, NC_000006.12:g.13278975_13278977dup, NC_000006.12:g.13278974_13278977dup, NC_000006.12:g.13278969_13278977dup, NC_000006.11:g.13279206_13279209del, NC_000006.11:g.13279208_13279209del, NC_000006.11:g.13279209del, NC_000006.11:g.13279209dup, NC_000006.11:g.13279208_13279209dup, NC_000006.11:g.13279207_13279209dup, NC_000006.11:g.13279206_13279209dup, NC_000006.11:g.13279201_13279209dup
6.
rs1491293714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 6:13290725
(GRCh38)
6:13290958
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13290725:T:TCT
- Gene:
- LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0.000142/2
(
ALFA)
TC=0.000018/2
(GnomAD)
TC=0.00003/8
(TOPMED)
- HGVS:
7.
rs1491292765 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AA,AAA,AAAA
[Show Flanks]
- Chromosome:
- 6:13276122
(GRCh38)
6:13276355
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13276122::AA,NC_000006.12:13276122::AAA,NC_000006.12:13276122::AAAA
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
AAAA=0.00002/1
(GnomAD)
- HGVS:
8.
rs1491291900 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:13284578
(GRCh38)
6:13284810
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13284577:GT:
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00006/5
(GnomAD)
- HGVS:
10.
rs1491174564 has merged into rs11372974 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:13278974
(GRCh38)
6:13279206
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4279/2143
(1000Genomes)
- HGVS:
NC_000006.12:g.13278974_13278977del, NC_000006.12:g.13278976_13278977del, NC_000006.12:g.13278977del, NC_000006.12:g.13278977dup, NC_000006.12:g.13278976_13278977dup, NC_000006.12:g.13278975_13278977dup, NC_000006.12:g.13278974_13278977dup, NC_000006.12:g.13278969_13278977dup, NC_000006.11:g.13279206_13279209del, NC_000006.11:g.13279208_13279209del, NC_000006.11:g.13279209del, NC_000006.11:g.13279209dup, NC_000006.11:g.13279208_13279209dup, NC_000006.11:g.13279207_13279209dup, NC_000006.11:g.13279206_13279209dup, NC_000006.11:g.13279201_13279209dup
12.
rs1491143012 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:13284518
(GRCh38)
6:13284751
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13284518::C
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.0002/5
(TOMMO)
- HGVS:
13.
rs1491138235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 6:13284579
(GRCh38)
6:13284812
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13284579:A:ACA
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
AC=0.00005/3
(GnomAD)
- HGVS:
14.
rs1491113290 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:13288810
(GRCh38)
6:13289043
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13288810::A
- Gene:
- LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00177/21
(
ALFA)
A=0.02111/240
(GnomAD)
- HGVS:
NC_000006.12:g.13288810_13288811insA, NC_000006.11:g.13289042_13289043insA, NM_030948.5:c.*1732_*1733insA, NM_030948.4:c.*1732_*1733insA, NM_001242648.3:c.*1732_*1733insA, NM_001322314.3:c.*1732_*1733insA, NM_001322314.2:c.*1732_*1733insA, NM_001322309.2:c.*1732_*1733insA, NM_001322308.2:c.*1732_*1733insA, NM_001322312.2:c.*1732_*1733insA, NM_001374581.1:c.*2524_*2525insA, NM_001374583.1:c.*2524_*2525insA
15.
rs1491099730 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:13291985
(GRCh38)
6:13292217
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13291984:CT:
- Gene:
- LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00005/3
(GnomAD)
- HGVS:
16.
rs1491053692 has merged into rs5874408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:13279040
(GRCh38)
6:13279272
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4663/2335
(1000Genomes)
- HGVS:
NC_000006.12:g.13279040_13279046del, NC_000006.12:g.13279043_13279046del, NC_000006.12:g.13279044_13279046del, NC_000006.12:g.13279045_13279046del, NC_000006.12:g.13279046del, NC_000006.12:g.13279046dup, NC_000006.12:g.13279045_13279046dup, NC_000006.12:g.13279044_13279046dup, NC_000006.12:g.13279032_13279046dup, NC_000006.12:g.13279046_13279047insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.13279272_13279278del, NC_000006.11:g.13279275_13279278del, NC_000006.11:g.13279276_13279278del, NC_000006.11:g.13279277_13279278del, NC_000006.11:g.13279278del, NC_000006.11:g.13279278dup, NC_000006.11:g.13279277_13279278dup, NC_000006.11:g.13279276_13279278dup, NC_000006.11:g.13279264_13279278dup, NC_000006.11:g.13279278_13279279insTTTTTTTTTTTTTTTTTTTTTTTTT
17.
rs1490908710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:13293864
(GRCh38)
6:13294096
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13293863:T:C
- Gene:
- LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
18.
rs1490824395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:13276088
(GRCh38)
6:13276320
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13276087:A:G
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
19.
rs1490786035 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 6:13289392
(GRCh38)
6:13289624
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13289391:TG:
- Gene:
- LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.13289392_13289393del, NC_000006.11:g.13289624_13289625del, NM_030948.5:c.*2314_*2315del, NM_030948.4:c.*2314_*2315del, NM_001242648.3:c.*2314_*2315del, NM_001322314.3:c.*2314_*2315del, NM_001322314.2:c.*2314_*2315del, NM_001322309.2:c.*2314_*2315del, NM_001322308.2:c.*2314_*2315del, NM_001322312.2:c.*2314_*2315del, NM_001374581.1:c.*3106_*3107del, NM_001374583.1:c.*3106_*3107del
20.
rs1490760868 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 6:13272826
(GRCh38)
6:13273058
(GRCh37)
- Canonical SPDI:
- NC_000006.12:13272825:TG:
- Gene:
- PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS: