Links from Gene
Items: 1 to 20 of 2814
1.
rs1491573230 has merged into rs199908321 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:196317171
(GRCh38)
3:196044042
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317154:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.0976/376
(ALSPAC)
GT=0.4906/2457
(1000Genomes)
- HGVS:
NC_000003.12:g.196317155GT[8], NC_000003.12:g.196317155GT[9], NC_000003.12:g.196317155GT[10], NC_000003.12:g.196317155GT[11], NC_000003.12:g.196317155GT[12], NC_000003.12:g.196317155GT[13], NC_000003.12:g.196317155GT[15], NC_000003.12:g.196317155GT[16], NC_000003.12:g.196317155GT[17], NC_000003.12:g.196317155GT[18], NC_000003.12:g.196317155GT[23], NC_000003.11:g.196044026GT[8], NC_000003.11:g.196044026GT[9], NC_000003.11:g.196044026GT[10], NC_000003.11:g.196044026GT[11], NC_000003.11:g.196044026GT[12], NC_000003.11:g.196044026GT[13], NC_000003.11:g.196044026GT[15], NC_000003.11:g.196044026GT[16], NC_000003.11:g.196044026GT[17], NC_000003.11:g.196044026GT[18], NC_000003.11:g.196044026GT[23], NG_054930.1:g.6113AC[8], NG_054930.1:g.6113AC[9], NG_054930.1:g.6113AC[10], NG_054930.1:g.6113AC[11], NG_054930.1:g.6113AC[12], NG_054930.1:g.6113AC[13], NG_054930.1:g.6113AC[15], NG_054930.1:g.6113AC[16], NG_054930.1:g.6113AC[17], NG_054930.1:g.6113AC[18], NG_054930.1:g.6113AC[23], XR_001740547.2:n.410AC[8], XR_001740547.2:n.410AC[9], XR_001740547.2:n.410AC[10], XR_001740547.2:n.410AC[11], XR_001740547.2:n.410AC[12], XR_001740547.2:n.410AC[13], XR_001740547.2:n.410AC[15], XR_001740547.2:n.410AC[16], XR_001740547.2:n.410AC[17], XR_001740547.2:n.410AC[18], XR_001740547.2:n.410AC[23], XR_001740547.1:n.824AC[8], XR_001740547.1:n.824AC[9], XR_001740547.1:n.824AC[10], XR_001740547.1:n.824AC[11], XR_001740547.1:n.824AC[12], XR_001740547.1:n.824AC[13], XR_001740547.1:n.824AC[15], XR_001740547.1:n.824AC[16], XR_001740547.1:n.824AC[17], XR_001740547.1:n.824AC[18], XR_001740547.1:n.824AC[23]
3.
rs1491561726 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:196320105
(GRCh38)
3:196046976
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196320104:CA:
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00076/9
(
ALFA)
-=0.00364/102
(TOMMO)
- HGVS:
4.
rs1491454362 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TGT,TGTGT
[Show Flanks]
- Chromosome:
- 3:196317062
(GRCh38)
3:196043934
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196317062::T,NC_000003.12:196317062::TGT,NC_000003.12:196317062::TGTGT
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00051/6
(
ALFA)
T=0.00084/6
(TOMMO)
- HGVS:
NC_000003.12:g.196317062_196317063insT, NC_000003.12:g.196317062_196317063insTGT, NC_000003.12:g.196317062_196317063insTGTGT, NC_000003.11:g.196043933_196043934insT, NC_000003.11:g.196043933_196043934insTGT, NC_000003.11:g.196043933_196043934insTGTGT, NG_054930.1:g.6232_6233insA, NG_054930.1:g.6232_6233insACA, NG_054930.1:g.6232_6233insACACA, XR_001740547.2:n.529_530insA, XR_001740547.2:n.529_530insACA, XR_001740547.2:n.529_530insACACA, XR_001740547.1:n.943_944insA, XR_001740547.1:n.943_944insACA, XR_001740547.1:n.943_944insACACA
5.
rs1491409106 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 3:196317021
(GRCh38)
3:196043892
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196317020:AG:
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00017/3
(TOMMO)
- HGVS:
7.
rs1491344452 has merged into rs758076354 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:196317485
(GRCh38)
3:196044356
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317470:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.0205/79
(ALSPAC)
- HGVS:
NC_000003.12:g.196317471GT[7], NC_000003.12:g.196317471GT[8], NC_000003.12:g.196317471GT[9], NC_000003.12:g.196317471GT[10], NC_000003.12:g.196317471GT[11], NC_000003.12:g.196317471GT[12], NC_000003.12:g.196317471GT[13], NC_000003.12:g.196317471GT[14], NC_000003.12:g.196317471GT[16], NC_000003.12:g.196317471GT[17], NC_000003.12:g.196317471GT[18], NC_000003.12:g.196317471GT[19], NC_000003.12:g.196317471GT[20], NC_000003.11:g.196044342GT[7], NC_000003.11:g.196044342GT[8], NC_000003.11:g.196044342GT[9], NC_000003.11:g.196044342GT[10], NC_000003.11:g.196044342GT[11], NC_000003.11:g.196044342GT[12], NC_000003.11:g.196044342GT[13], NC_000003.11:g.196044342GT[14], NC_000003.11:g.196044342GT[16], NC_000003.11:g.196044342GT[17], NC_000003.11:g.196044342GT[18], NC_000003.11:g.196044342GT[19], NC_000003.11:g.196044342GT[20], NG_054930.1:g.5795AC[7], NG_054930.1:g.5795AC[8], NG_054930.1:g.5795AC[9], NG_054930.1:g.5795AC[10], NG_054930.1:g.5795AC[11], NG_054930.1:g.5795AC[12], NG_054930.1:g.5795AC[13], NG_054930.1:g.5795AC[14], NG_054930.1:g.5795AC[16], NG_054930.1:g.5795AC[17], NG_054930.1:g.5795AC[18], NG_054930.1:g.5795AC[19], NG_054930.1:g.5795AC[20], XR_001740547.2:n.92AC[7], XR_001740547.2:n.92AC[8], XR_001740547.2:n.92AC[9], XR_001740547.2:n.92AC[10], XR_001740547.2:n.92AC[11], XR_001740547.2:n.92AC[12], XR_001740547.2:n.92AC[13], XR_001740547.2:n.92AC[14], XR_001740547.2:n.92AC[16], XR_001740547.2:n.92AC[17], XR_001740547.2:n.92AC[18], XR_001740547.2:n.92AC[19], XR_001740547.2:n.92AC[20], XR_001740547.1:n.506AC[7], XR_001740547.1:n.506AC[8], XR_001740547.1:n.506AC[9], XR_001740547.1:n.506AC[10], XR_001740547.1:n.506AC[11], XR_001740547.1:n.506AC[12], XR_001740547.1:n.506AC[13], XR_001740547.1:n.506AC[14], XR_001740547.1:n.506AC[16], XR_001740547.1:n.506AC[17], XR_001740547.1:n.506AC[18], XR_001740547.1:n.506AC[19], XR_001740547.1:n.506AC[20]
9.
rs1491090538 has merged into rs113141859 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:196317034
(GRCh38)
3:196043905
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196317021:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.196317022GT[6], NC_000003.12:g.196317022GT[7], NC_000003.12:g.196317022GT[8], NC_000003.12:g.196317022GT[9], NC_000003.12:g.196317022GT[10], NC_000003.12:g.196317022GT[11], NC_000003.12:g.196317022GT[13], NC_000003.12:g.196317022GT[14], NC_000003.12:g.196317022GT[15], NC_000003.12:g.196317022GT[16], NC_000003.12:g.196317022GT[17], NC_000003.11:g.196043893GT[6], NC_000003.11:g.196043893GT[7], NC_000003.11:g.196043893GT[8], NC_000003.11:g.196043893GT[9], NC_000003.11:g.196043893GT[10], NC_000003.11:g.196043893GT[11], NC_000003.11:g.196043893GT[13], NC_000003.11:g.196043893GT[14], NC_000003.11:g.196043893GT[15], NC_000003.11:g.196043893GT[16], NC_000003.11:g.196043893GT[17], NG_054930.1:g.6250AC[6], NG_054930.1:g.6250AC[7], NG_054930.1:g.6250AC[8], NG_054930.1:g.6250AC[9], NG_054930.1:g.6250AC[10], NG_054930.1:g.6250AC[11], NG_054930.1:g.6250AC[13], NG_054930.1:g.6250AC[14], NG_054930.1:g.6250AC[15], NG_054930.1:g.6250AC[16], NG_054930.1:g.6250AC[17], XR_001740547.2:n.547AC[6], XR_001740547.2:n.547AC[7], XR_001740547.2:n.547AC[8], XR_001740547.2:n.547AC[9], XR_001740547.2:n.547AC[10], XR_001740547.2:n.547AC[11], XR_001740547.2:n.547AC[13], XR_001740547.2:n.547AC[14], XR_001740547.2:n.547AC[15], XR_001740547.2:n.547AC[16], XR_001740547.2:n.547AC[17], XR_001740547.1:n.961AC[6], XR_001740547.1:n.961AC[7], XR_001740547.1:n.961AC[8], XR_001740547.1:n.961AC[9], XR_001740547.1:n.961AC[10], XR_001740547.1:n.961AC[11], XR_001740547.1:n.961AC[13], XR_001740547.1:n.961AC[14], XR_001740547.1:n.961AC[15], XR_001740547.1:n.961AC[16], XR_001740547.1:n.961AC[17]
10.
rs1490611632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:196321512
(GRCh38)
3:196048383
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196321511:G:A
- Gene:
- TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490296437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:196321732
(GRCh38)
3:196048603
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196321731:T:C
- Gene:
- TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.00003/8
(TOPMED)
C=0.00006/1
(TOMMO)
C=0.000546/1
(Korea1K)
C=0.001027/3
(KOREAN)
T=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1489601357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:196318950
(GRCh38)
3:196045821
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196318949:G:T
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489142174 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TTTCA>-
[Show Flanks]
- Chromosome:
- 3:196317263
(GRCh38)
3:196044134
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196317262:TTTCA:
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0./0
(Korea1K)
-=0.00005/4
(GnomAD)
-=0.00073/10
(TOMMO)
- HGVS:
14.
rs1489122374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GATT
[Show Flanks]
- Chromosome:
- 3:196325866
(GRCh38)
3:196052738
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196325866:TGATT:TGATTGATT
- Gene:
- TM4SF19 (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TGATTGATT=0./0
(
ALFA)
TGAT=0.000011/3
(TOPMED)
- HGVS:
15.
rs1489060146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:196324125
(GRCh38)
3:196050996
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196324124:C:T
- Gene:
- TM4SF19 (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.00001/2
(GnomAD_exomes)
- HGVS:
16.
rs1488945397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:196318322
(GRCh38)
3:196045193
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196318321:G:A
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
17.
rs1488822963 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 3:196316914
(GRCh38)
3:196043785
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196316913:GG:G
- Gene:
- DYNLT2B (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview), LOC107986031 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.00008/1
(
ALFA)
-=0.0005/6
(TOMMO)
- HGVS:
18.
rs1488447478 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGAAG>-
[Show Flanks]
- Chromosome:
- 3:196323720
(GRCh38)
3:196050591
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196323716:AAGGGGAAG:AAG
- Gene:
- TM4SF19 (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,downstream_transcript_variant,inframe_deletion,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000009/2
(GnomAD_exomes)
- HGVS:
19.
rs1487797837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:196321353
(GRCh38)
3:196048224
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196321352:G:C
- Gene:
- TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1487593498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:196324470
(GRCh38)
3:196051341
(GRCh37)
- Canonical SPDI:
- NC_000003.12:196324469:G:C
- Gene:
- TM4SF19 (Varview), TM4SF19-DYNLT2B (Varview), TM4SF19-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: