Links from Gene
Items: 1 to 20 of 1000
1.
rs1490999245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:28088629
(GRCh38)
6:28056407
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28088628:G:A
- Gene:
- ZNF165 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000028/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.28088629G>A, NC_000006.11:g.28056407G>A, NM_003447.4:c.617G>A, NM_003447.3:c.617G>A, XM_017011261.3:c.95G>A, XM_017011261.2:c.95G>A, XM_017011261.1:c.95G>A, NM_001376493.1:c.617G>A, NM_001376492.1:c.617G>A, NM_001376491.1:c.617G>A, NM_001376494.1:c.41G>A, NP_003438.1:p.Arg206Lys, XP_016866750.1:p.Arg32Lys, NP_001363422.1:p.Arg206Lys, NP_001363421.1:p.Arg206Lys, NP_001363420.1:p.Arg206Lys, NP_001363423.1:p.Arg14Lys
2.
rs1490861180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:28090205
(GRCh38)
6:28057983
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28090204:G:A
- Gene:
- ZSCAN12P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
3.
rs1490665117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:28100392
(GRCh38)
6:28068170
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28100391:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490627770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:28099055
(GRCh38)
6:28066833
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28099054:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490467833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:28080119
(GRCh38)
6:28047897
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28080118:T:A
- Gene:
- ZNF165 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490402626 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:28080727
(GRCh38)
6:28048505
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28080726:TTT:TT
- Gene:
- ZNF165 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
- HGVS:
7.
rs1490303795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:28098111
(GRCh38)
6:28065889
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28098110:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490062264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:28088874
(GRCh38)
6:28056652
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28088873:C:T
- Gene:
- ZNF165 (Varview), ZSCAN12P1 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.28088874C>T, NC_000006.11:g.28056652C>T, NM_003447.4:c.862C>T, NM_003447.3:c.862C>T, XM_017011261.3:c.340C>T, XM_017011261.2:c.340C>T, XM_017011261.1:c.340C>T, NM_001376493.1:c.862C>T, NM_001376492.1:c.862C>T, NM_001376491.1:c.862C>T, NM_001376494.1:c.286C>T, NP_003438.1:p.His288Tyr, XP_016866750.1:p.His114Tyr, NP_001363422.1:p.His288Tyr, NP_001363421.1:p.His288Tyr, NP_001363420.1:p.His288Tyr, NP_001363423.1:p.His96Tyr
10.
rs1489509700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:28100208
(GRCh38)
6:28067986
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28100207:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
- HGVS:
11.
rs1489435049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:28099727
(GRCh38)
6:28067505
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28099726:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1489409306 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:28091680
(GRCh38)
6:28059458
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28091679:TTT:TT
- Gene:
- ZSCAN12P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000054/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
13.
rs1489226585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:28094499
(GRCh38)
6:28062277
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28094498:T:A
- Gene:
- ZSCAN12P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00013/2
(
ALFA)
A=0.00045/2
(Estonian)
- HGVS:
15.
rs1488247073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 6:28095969
(GRCh38)
6:28063747
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28095968:T:A,NC_000006.12:28095968:T:G
- Gene:
- ZSCAN12P1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
16.
rs1488096808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 6:28080150
(GRCh38)
6:28047928
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28080149:A:C,NC_000006.12:28080149:A:G
- Gene:
- ZNF165 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.00273/5
(Korea1K)
- HGVS:
18.
rs1487775806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:28094737
(GRCh38)
6:28062515
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28094736:A:G
- Gene:
- ZSCAN12P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487516552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:28096174
(GRCh38)
6:28063952
(GRCh37)
- Canonical SPDI:
- NC_000006.12:28096173:G:A
- Gene:
- ZSCAN12P1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: