Links from Gene
Items: 1 to 20 of 4511
1.
rs1491585451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:148000287
(GRCh38)
1:147472519
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148000285:ATA:A
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491551498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:148000796
(GRCh38)
1:147473028
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148000794:ACA:A
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.020738/246
(
ALFA)
-=0.026113/3080
(GnomAD)
- HGVS:
3.
rs1491412354 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:148000286
(GRCh38)
1:147472519
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148000286:T:TT
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000084/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000022/3
(GnomAD)
- HGVS:
4.
rs1491396184 has merged into rs3054838 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:147998891
(GRCh38)
1:147471123
(GRCh37)
- Canonical SPDI:
- NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:147998880:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.147998891_147998901del, NC_000001.11:g.147998892_147998901del, NC_000001.11:g.147998893_147998901del, NC_000001.11:g.147998895_147998901del, NC_000001.11:g.147998896_147998901del, NC_000001.11:g.147998897_147998901del, NC_000001.11:g.147998898_147998901del, NC_000001.11:g.147998899_147998901del, NC_000001.11:g.147998900_147998901del, NC_000001.11:g.147998901del, NC_000001.11:g.147998901dup, NC_000001.11:g.147998900_147998901dup, NC_000001.11:g.147998899_147998901dup, NW_003871055.3:g.4814304_4814314del, NW_003871055.3:g.4814305_4814314del, NW_003871055.3:g.4814306_4814314del, NW_003871055.3:g.4814308_4814314del, NW_003871055.3:g.4814309_4814314del, NW_003871055.3:g.4814310_4814314del, NW_003871055.3:g.4814311_4814314del, NW_003871055.3:g.4814312_4814314del, NW_003871055.3:g.4814313_4814314del, NW_003871055.3:g.4814314del, NW_003871055.3:g.4814314dup, NW_003871055.3:g.4814313_4814314dup, NW_003871055.3:g.4814312_4814314dup, NC_000001.10:g.147471123_147471133del, NC_000001.10:g.147471124_147471133del, NC_000001.10:g.147471125_147471133del, NC_000001.10:g.147471127_147471133del, NC_000001.10:g.147471128_147471133del, NC_000001.10:g.147471129_147471133del, NC_000001.10:g.147471130_147471133del, NC_000001.10:g.147471131_147471133del, NC_000001.10:g.147471132_147471133del, NC_000001.10:g.147471133del, NC_000001.10:g.147471133dup, NC_000001.10:g.147471132_147471133dup, NC_000001.10:g.147471131_147471133dup
5.
rs1491387462 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 1:148002037
(GRCh38)
1:147474269
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148002036:GC:
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
6.
rs1491378598 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:147998880
(GRCh38)
1:147471112
(GRCh37)
- Canonical SPDI:
- NC_000001.11:147998879:CA:
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00021/6
(TOMMO)
- HGVS:
8.
rs1491253155 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:148000795
(GRCh38)
1:147473028
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148000795:C:CC
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
9.
rs1491216770 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:148002037
(GRCh38)
1:147474270
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148002037:C:CC
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.011166/1321
(GnomAD)
C=0.032029/905
(TOMMO)
C=0.056346/103
(Korea1K)
- HGVS:
10.
rs1491206367 has merged into rs782492958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTCTCTCTCTCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 1:148015314
(GRCh38)
1:147487546
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:148015293:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- PDZK1P1 (Varview), LINC02804 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCTCTC=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.148015294TC[10], NC_000001.11:g.148015294TC[11], NC_000001.11:g.148015294TC[12], NC_000001.11:g.148015294TC[13], NC_000001.11:g.148015294TC[14], NC_000001.11:g.148015294TC[15], NC_000001.11:g.148015294TC[16], NC_000001.11:g.148015294TC[17], NC_000001.11:g.148015294TC[18], NC_000001.11:g.148015294TC[19], NC_000001.11:g.148015294TC[20], NC_000001.11:g.148015294TC[22], NC_000001.11:g.148015294TC[23], NC_000001.11:g.148015294TC[24], NC_000001.11:g.148015294TC[25], NC_000001.11:g.148015294TC[26], NC_000001.11:g.148015294TC[27], NC_000001.11:g.148015294TC[28], NC_000001.11:g.148015294TC[29], NC_000001.11:g.148015294TC[30], NW_003871055.3:g.4830707TC[10], NW_003871055.3:g.4830707TC[11], NW_003871055.3:g.4830707TC[12], NW_003871055.3:g.4830707TC[13], NW_003871055.3:g.4830707TC[14], NW_003871055.3:g.4830707TC[15], NW_003871055.3:g.4830707TC[16], NW_003871055.3:g.4830707TC[17], NW_003871055.3:g.4830707TC[18], NW_003871055.3:g.4830707TC[19], NW_003871055.3:g.4830707TC[20], NW_003871055.3:g.4830707TC[22], NW_003871055.3:g.4830707TC[23], NW_003871055.3:g.4830707TC[24], NW_003871055.3:g.4830707TC[25], NW_003871055.3:g.4830707TC[26], NW_003871055.3:g.4830707TC[27], NW_003871055.3:g.4830707TC[28], NW_003871055.3:g.4830707TC[29], NW_003871055.3:g.4830707TC[30], NC_000001.10:g.147487526TC[21], NC_000001.10:g.147487526TC[10], NC_000001.10:g.147487526TC[11], NC_000001.10:g.147487526TC[12], NC_000001.10:g.147487526TC[13], NC_000001.10:g.147487526TC[14], NC_000001.10:g.147487526TC[15], NC_000001.10:g.147487526TC[16], NC_000001.10:g.147487526TC[17], NC_000001.10:g.147487526TC[18], NC_000001.10:g.147487526TC[19], NC_000001.10:g.147487526TC[22], NC_000001.10:g.147487526TC[23], NC_000001.10:g.147487526TC[24], NC_000001.10:g.147487526TC[25], NC_000001.10:g.147487526TC[26], NC_000001.10:g.147487526TC[27], NC_000001.10:g.147487526TC[28], NC_000001.10:g.147487526TC[29], NC_000001.10:g.147487526TC[30]
13.
rs1491134368 has merged into rs1202109777 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:148000791
(GRCh38)
1:147473023
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148000775:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.148000791_148000795del, NC_000001.11:g.148000792_148000795del, NC_000001.11:g.148000793_148000795del, NC_000001.11:g.148000794_148000795del, NC_000001.11:g.148000795del, NC_000001.11:g.148000795dup, NC_000001.11:g.148000794_148000795dup, NC_000001.11:g.148000793_148000795dup, NC_000001.11:g.148000792_148000795dup, NC_000001.11:g.148000791_148000795dup, NC_000001.11:g.148000789_148000795dup, NC_000001.11:g.148000788_148000795dup, NC_000001.11:g.148000785_148000795dup, NC_000001.11:g.148000782_148000795dup, NW_003871055.3:g.4816204_4816208del, NW_003871055.3:g.4816205_4816208del, NW_003871055.3:g.4816206_4816208del, NW_003871055.3:g.4816207_4816208del, NW_003871055.3:g.4816208del, NW_003871055.3:g.4816208dup, NW_003871055.3:g.4816207_4816208dup, NW_003871055.3:g.4816206_4816208dup, NW_003871055.3:g.4816205_4816208dup, NW_003871055.3:g.4816204_4816208dup, NW_003871055.3:g.4816202_4816208dup, NW_003871055.3:g.4816201_4816208dup, NW_003871055.3:g.4816198_4816208dup, NW_003871055.3:g.4816195_4816208dup, NC_000001.10:g.147473023_147473027del, NC_000001.10:g.147473024_147473027del, NC_000001.10:g.147473025_147473027del, NC_000001.10:g.147473026_147473027del, NC_000001.10:g.147473027del, NC_000001.10:g.147473027dup, NC_000001.10:g.147473026_147473027dup, NC_000001.10:g.147473025_147473027dup, NC_000001.10:g.147473024_147473027dup, NC_000001.10:g.147473023_147473027dup, NC_000001.10:g.147473021_147473027dup, NC_000001.10:g.147473020_147473027dup, NC_000001.10:g.147473017_147473027dup, NC_000001.10:g.147473014_147473027dup
14.
rs1490950133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:148002827
(GRCh38)
1:147475059
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148002826:C:G,NC_000001.11:148002826:C:T
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490942023 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:148015027
(GRCh38)
1:147487259
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148015026:G:
- Gene:
- PDZK1P1 (Varview), LINC02804 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
NC_000001.11:g.148015027del, NW_003871055.3:g.4830440del, NC_000001.10:g.147487259del, XR_002958617.2:n.4910del, XR_002958617.1:n.4846del, XR_007066559.1:n.5339del, XR_007066554.1:n.5067del, XR_007066547.1:n.4980del, XR_007066558.1:n.4846del, XR_007066557.1:n.4980del, XR_007066556.1:n.4980del, XR_007066555.1:n.4912del
16.
rs1490870080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:148015582
(GRCh38)
1:147487812
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148015581:G:A
- Gene:
- PDZK1P1 (Varview), LINC02804 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490765854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:147994478
(GRCh38)
1:147466710
(GRCh37)
- Canonical SPDI:
- NC_000001.11:147994477:C:T
- Gene:
- PDZK1P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000169/2
(
ALFA)
T=0.000035/1
(TOMMO)
T=0.000156/1
(1000Genomes)
T=0.000453/120
(TOPMED)
T=0.000466/65
(GnomAD)
- HGVS:
19.
rs1490682759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:148009382
(GRCh38)
1:147481614
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148009381:C:T
- Gene:
- PDZK1P1 (Varview), LINC02804 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490672557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:148007955
(GRCh38)
1:147480187
(GRCh37)
- Canonical SPDI:
- NC_000001.11:148007954:G:A
- Gene:
- PDZK1P1 (Varview), LINC02804 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: