Links from Gene
Items: 1 to 20 of 1000
1.
rs1491473546 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CCCATCCCCC,CCCATTCCCCACT,CTCCATCCCCCACTAAACCCATCTCCC,CTCCATCCCCCACTAAACCCATCTCCCAACAA,CTCCATCCCCCACTAAACCCATCTCCCACCAA,CTCCATCCCCCCCTAAACCCATCTCCCAACAA,CTCCATCCTCC,TCCATCCCCC,TCCATCCCTT,TCCATCCTCC
[Show Flanks]
- Chromosome:
- 1:47184459
(GRCh38)
1:47650132
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47184459::CCCATCCCCC,NC_000001.11:47184459::CCCATTCCCCACT,NC_000001.11:47184459::CTCCATCCCCCACTAAACCCATCTCCC,NC_000001.11:47184459::CTCCATCCCCCACTAAACCCATCTCCCAACAA,NC_000001.11:47184459::CTCCATCCCCCACTAAACCCATCTCCCACCAA,NC_000001.11:47184459::CTCCATCCCCCCCTAAACCCATCTCCCAACAA,NC_000001.11:47184459::CTCCATCCTCC,NC_000001.11:47184459::TCCATCCCCC,NC_000001.11:47184459::TCCATCCCTT,NC_000001.11:47184459::TCCATCCTCC
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCCATCCTCC=0./0
(
ALFA)
-=0.05556/1
(Korea1K)
- HGVS:
NC_000001.11:g.47184459_47184460insCCCATCCCCC, NC_000001.11:g.47184459_47184460insCCCATTCCCCACT, NC_000001.11:g.47184459_47184460insCTCCATCCCCCACTAAACCCATCTCCC, NC_000001.11:g.47184459_47184460insCTCCATCCCCCACTAAACCCATCTCCCAACAA, NC_000001.11:g.47184459_47184460insCTCCATCCCCCACTAAACCCATCTCCCACCAA, NC_000001.11:g.47184459_47184460insCTCCATCCCCCCCTAAACCCATCTCCCAACAA, NC_000001.11:g.47184459_47184460insCTCCATCCTCC, NC_000001.11:g.47184459_47184460insTCCATCCCCC, NC_000001.11:g.47184459_47184460insTCCATCCCTT, NC_000001.11:g.47184459_47184460insTCCATCCTCC, NC_000001.10:g.47650131_47650132insCCCATCCCCC, NC_000001.10:g.47650131_47650132insCCCATTCCCCACT, NC_000001.10:g.47650131_47650132insCTCCATCCCCCACTAAACCCATCTCCC, NC_000001.10:g.47650131_47650132insCTCCATCCCCCACTAAACCCATCTCCCAACAA, NC_000001.10:g.47650131_47650132insCTCCATCCCCCACTAAACCCATCTCCCACCAA, NC_000001.10:g.47650131_47650132insCTCCATCCCCCCCTAAACCCATCTCCCAACAA, NC_000001.10:g.47650131_47650132insCTCCATCCTCC, NC_000001.10:g.47650131_47650132insTCCATCCCCC, NC_000001.10:g.47650131_47650132insTCCATCCCTT, NC_000001.10:g.47650131_47650132insTCCATCCTCC
2.
rs1491456850 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:47191385
(GRCh38)
1:47657057
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47191384:CT:
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
3.
rs1491432638 has merged into rs56063191 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 1:47191408
(GRCh38)
1:47657080
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:47191385:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.47191386TG[11], NC_000001.11:g.47191386TG[12], NC_000001.11:g.47191386TG[13], NC_000001.11:g.47191386TG[14], NC_000001.11:g.47191386TG[15], NC_000001.11:g.47191386TG[16], NC_000001.11:g.47191386TG[17], NC_000001.11:g.47191386TG[18], NC_000001.11:g.47191386TG[19], NC_000001.11:g.47191386TG[20], NC_000001.11:g.47191386TG[21], NC_000001.11:g.47191386TG[22], NC_000001.11:g.47191386TG[23], NC_000001.11:g.47191386TG[24], NC_000001.11:g.47191386TG[26], NC_000001.11:g.47191386TG[27], NC_000001.11:g.47191386TG[28], NC_000001.11:g.47191386TG[29], NC_000001.11:g.47191386TG[30], NC_000001.11:g.47191386TG[31], NC_000001.10:g.47657058TG[11], NC_000001.10:g.47657058TG[12], NC_000001.10:g.47657058TG[13], NC_000001.10:g.47657058TG[14], NC_000001.10:g.47657058TG[15], NC_000001.10:g.47657058TG[16], NC_000001.10:g.47657058TG[17], NC_000001.10:g.47657058TG[18], NC_000001.10:g.47657058TG[19], NC_000001.10:g.47657058TG[20], NC_000001.10:g.47657058TG[21], NC_000001.10:g.47657058TG[22], NC_000001.10:g.47657058TG[23], NC_000001.10:g.47657058TG[24], NC_000001.10:g.47657058TG[26], NC_000001.10:g.47657058TG[27], NC_000001.10:g.47657058TG[28], NC_000001.10:g.47657058TG[29], NC_000001.10:g.47657058TG[30], NC_000001.10:g.47657058TG[31]
4.
rs1490648019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,TTTT
[Show Flanks]
- Chromosome:
- 1:47188176
(GRCh38)
1:47653848
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47188171:TTTTTTT:TTTT,NC_000001.11:47188171:TTTTTTT:TTTTTTTT
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
-=0.000156/1
(1000Genomes)
- HGVS:
5.
rs1490592551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:47184526
(GRCh38)
1:47650198
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47184525:T:C
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00026/5
(GnomAD)
C=0.00029/4
(TOMMO)
- HGVS:
6.
rs1490052128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:47187016
(GRCh38)
1:47652688
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47187015:G:A
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000038/10
(TOPMED)
- HGVS:
7.
rs1489219407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:47187808
(GRCh38)
1:47653480
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47187807:C:T
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1488911242 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:47187720
(GRCh38)
1:47653393
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47187720:T:TT
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1488890630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:47188395
(GRCh38)
1:47654068
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47188395:TTT:TTTT
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0.000071/1
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
11.
rs1488389244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:47183822
(GRCh38)
1:47649494
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47183821:T:C
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
12.
rs1488152626 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TGTGT>-
[Show Flanks]
- Chromosome:
- 1:47191414
(GRCh38)
1:47657086
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47191413:TGTGT:
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1486848644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:47188915
(GRCh38)
1:47654587
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47188914:T:C
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1485646785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:47184451
(GRCh38)
1:47650123
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47184450:C:G,NC_000001.11:47184450:C:T
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.1078/315
(KOREAN)
C=0.5/10
(SGDP_PRJ)
- HGVS:
15.
rs1485038622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:47187369
(GRCh38)
1:47653041
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47187368:G:A,NC_000001.11:47187368:G:C
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1484955173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:47185276
(GRCh38)
1:47650948
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47185275:C:T
- Gene:
- PDZK1IP1 (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:
17.
rs1484493639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:47185878
(GRCh38)
1:47651550
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47185877:C:G
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1484311718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:47190249
(GRCh38)
1:47655921
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47190248:G:C
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1483795977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:47184418
(GRCh38)
1:47650090
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47184417:C:A,NC_000001.11:47184417:C:T
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00147/2
(Korea1K)
A=0.01575/46
(KOREAN)
- HGVS:
20.
rs1483784239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:47191706
(GRCh38)
1:47657378
(GRCh37)
- Canonical SPDI:
- NC_000001.11:47191705:C:A,NC_000001.11:47191705:C:T
- Gene:
- PDZK1IP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: