Links from Gene
Items: 1 to 20 of 7447
2.
rs1491496312 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 14:31422098
(GRCh38)
14:31891305
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31422098:T:TGT,NC_000014.9:31422098:T:TGTGT,NC_000014.9:31422098:T:TGTGTGT,NC_000014.9:31422098:T:TGTGTGTGT,NC_000014.9:31422098:T:TGTGTGTGTGT,NC_000014.9:31422098:T:TGTGTGTGTGTGT,NC_000014.9:31422098:T:TGTGTGTGTGTGTGT
- Gene:
- HEATR5A (Varview), HEATR5A-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TGTGTGTGTGTGTG=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.31422099_31422100insGT, NC_000014.9:g.31422099_31422100insGTGT, NC_000014.9:g.31422100GT[3], NC_000014.9:g.31422100GT[4], NC_000014.9:g.31422100GT[5], NC_000014.9:g.31422100GT[6], NC_000014.9:g.31422100GT[7], NC_000014.8:g.31891305_31891306insGT, NC_000014.8:g.31891305_31891306insGTGT, NC_000014.8:g.31891306GT[3], NC_000014.8:g.31891306GT[4], NC_000014.8:g.31891306GT[5], NC_000014.8:g.31891306GT[6], NC_000014.8:g.31891306GT[7]
4.
rs1491461086 has merged into rs35473880 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:31421830
(GRCh38)
14:31891036
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31421820:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HEATR5A (Varview), HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
TTTTTTT=0.004389/71
(TOMMO)
TT=0.255579/985
(ALSPAC)
TT=0.260787/967
(TWINSUK)
- HGVS:
NC_000014.9:g.31421830_31421837del, NC_000014.9:g.31421834_31421837del, NC_000014.9:g.31421836_31421837del, NC_000014.9:g.31421837del, NC_000014.9:g.31421837dup, NC_000014.9:g.31421836_31421837dup, NC_000014.9:g.31421835_31421837dup, NC_000014.9:g.31421834_31421837dup, NC_000014.9:g.31421833_31421837dup, NC_000014.9:g.31421832_31421837dup, NC_000014.9:g.31421831_31421837dup, NC_000014.9:g.31421830_31421837dup, NC_000014.9:g.31421829_31421837dup, NC_000014.9:g.31421827_31421837dup, NC_000014.9:g.31421825_31421837dup, NC_000014.8:g.31891036_31891043del, NC_000014.8:g.31891040_31891043del, NC_000014.8:g.31891042_31891043del, NC_000014.8:g.31891043del, NC_000014.8:g.31891043dup, NC_000014.8:g.31891042_31891043dup, NC_000014.8:g.31891041_31891043dup, NC_000014.8:g.31891040_31891043dup, NC_000014.8:g.31891039_31891043dup, NC_000014.8:g.31891038_31891043dup, NC_000014.8:g.31891037_31891043dup, NC_000014.8:g.31891036_31891043dup, NC_000014.8:g.31891035_31891043dup, NC_000014.8:g.31891033_31891043dup, NC_000014.8:g.31891031_31891043dup
5.
rs1491392721 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:31436736
(GRCh38)
14:31905943
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31436736:A:AA
- Gene:
- HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491391475 has merged into rs34818987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:31430322
(GRCh38)
14:31899528
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.31430322_31430336del, NC_000014.9:g.31430323_31430336del, NC_000014.9:g.31430324_31430336del, NC_000014.9:g.31430325_31430336del, NC_000014.9:g.31430326_31430336del, NC_000014.9:g.31430327_31430336del, NC_000014.9:g.31430328_31430336del, NC_000014.9:g.31430329_31430336del, NC_000014.9:g.31430330_31430336del, NC_000014.9:g.31430332_31430336del, NC_000014.9:g.31430333_31430336del, NC_000014.9:g.31430334_31430336del, NC_000014.9:g.31430335_31430336del, NC_000014.9:g.31430336del, NC_000014.9:g.31430336dup, NC_000014.9:g.31430335_31430336dup, NC_000014.9:g.31430334_31430336dup, NC_000014.9:g.31430333_31430336dup, NC_000014.9:g.31430332_31430336dup, NC_000014.9:g.31430326_31430336dup, NC_000014.9:g.31430324_31430336dup, NC_000014.9:g.31430322_31430336dup, NC_000014.9:g.31430336_31430337insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31899528_31899542del, NC_000014.8:g.31899529_31899542del, NC_000014.8:g.31899530_31899542del, NC_000014.8:g.31899531_31899542del, NC_000014.8:g.31899532_31899542del, NC_000014.8:g.31899533_31899542del, NC_000014.8:g.31899534_31899542del, NC_000014.8:g.31899535_31899542del, NC_000014.8:g.31899536_31899542del, NC_000014.8:g.31899538_31899542del, NC_000014.8:g.31899539_31899542del, NC_000014.8:g.31899540_31899542del, NC_000014.8:g.31899541_31899542del, NC_000014.8:g.31899542del, NC_000014.8:g.31899542dup, NC_000014.8:g.31899541_31899542dup, NC_000014.8:g.31899540_31899542dup, NC_000014.8:g.31899539_31899542dup, NC_000014.8:g.31899538_31899542dup, NC_000014.8:g.31899532_31899542dup, NC_000014.8:g.31899530_31899542dup, NC_000014.8:g.31899528_31899542dup, NC_000014.8:g.31899542_31899543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491358041 has merged into rs34116335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 14:31451468
(GRCh38)
14:31920674
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31451461:TTTTTTTTT:TTTTTT,NC_000014.9:31451461:TTTTTTTTT:TTTTTTT,NC_000014.9:31451461:TTTTTTTTT:TTTTTTTT,NC_000014.9:31451461:TTTTTTTTT:TTTTTTTTTT,NC_000014.9:31451461:TTTTTTTTT:TTTTTTTTTTT
- Gene:
- DTD2 (Varview), HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00031/2
(1000Genomes)
TT=0.34736/1288
(TWINSUK)
TT=0.36508/1407
(ALSPAC)
- HGVS:
8.
rs1491347298 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:31425635
(GRCh38)
14:31894841
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31425633:ACA:A
- Gene:
- HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000253/3
(
ALFA)
-=0.000121/17
(GnomAD)
- HGVS:
9.
rs1491298480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:31422100
(GRCh38)
14:31891306
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31422097:ATAT:AT
- Gene:
- HEATR5A (Varview), HEATR5A-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0.00017/2
(
ALFA)
-=0.00016/1
(1000Genomes)
-=0.00052/31
(GnomAD)
-=0.00117/20
(TOMMO)
-=0.00164/3
(Korea1K)
- HGVS:
10.
rs1491260883 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:31425634
(GRCh38)
14:31894841
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31425634::G
- Gene:
- HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491184101 has merged into rs35826774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 14:31422207
(GRCh38)
14:31891413
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:31422193:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- HEATR5A (Varview), HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTG=0.000004/1
(TOPMED)
TG=0.35/14
(GENOME_DK)
TG=0.366438/214
(NorthernSweden)
TG=0.407816/407
(GoNL)
- HGVS:
NC_000014.9:g.31422195GT[6], NC_000014.9:g.31422195GT[7], NC_000014.9:g.31422195GT[8], NC_000014.9:g.31422195GT[9], NC_000014.9:g.31422195GT[10], NC_000014.9:g.31422195GT[12], NC_000014.9:g.31422195GT[13], NC_000014.9:g.31422195GT[14], NC_000014.9:g.31422195GT[15], NC_000014.8:g.31891401GT[6], NC_000014.8:g.31891401GT[7], NC_000014.8:g.31891401GT[8], NC_000014.8:g.31891401GT[9], NC_000014.8:g.31891401GT[10], NC_000014.8:g.31891401GT[12], NC_000014.8:g.31891401GT[13], NC_000014.8:g.31891401GT[14], NC_000014.8:g.31891401GT[15]
12.
rs1491172813 has merged into rs34818987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:31430322
(GRCh38)
14:31899528
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:31430313:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.31430322_31430336del, NC_000014.9:g.31430323_31430336del, NC_000014.9:g.31430324_31430336del, NC_000014.9:g.31430325_31430336del, NC_000014.9:g.31430326_31430336del, NC_000014.9:g.31430327_31430336del, NC_000014.9:g.31430328_31430336del, NC_000014.9:g.31430329_31430336del, NC_000014.9:g.31430330_31430336del, NC_000014.9:g.31430332_31430336del, NC_000014.9:g.31430333_31430336del, NC_000014.9:g.31430334_31430336del, NC_000014.9:g.31430335_31430336del, NC_000014.9:g.31430336del, NC_000014.9:g.31430336dup, NC_000014.9:g.31430335_31430336dup, NC_000014.9:g.31430334_31430336dup, NC_000014.9:g.31430333_31430336dup, NC_000014.9:g.31430332_31430336dup, NC_000014.9:g.31430326_31430336dup, NC_000014.9:g.31430324_31430336dup, NC_000014.9:g.31430322_31430336dup, NC_000014.9:g.31430336_31430337insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.31899528_31899542del, NC_000014.8:g.31899529_31899542del, NC_000014.8:g.31899530_31899542del, NC_000014.8:g.31899531_31899542del, NC_000014.8:g.31899532_31899542del, NC_000014.8:g.31899533_31899542del, NC_000014.8:g.31899534_31899542del, NC_000014.8:g.31899535_31899542del, NC_000014.8:g.31899536_31899542del, NC_000014.8:g.31899538_31899542del, NC_000014.8:g.31899539_31899542del, NC_000014.8:g.31899540_31899542del, NC_000014.8:g.31899541_31899542del, NC_000014.8:g.31899542del, NC_000014.8:g.31899542dup, NC_000014.8:g.31899541_31899542dup, NC_000014.8:g.31899540_31899542dup, NC_000014.8:g.31899539_31899542dup, NC_000014.8:g.31899538_31899542dup, NC_000014.8:g.31899532_31899542dup, NC_000014.8:g.31899530_31899542dup, NC_000014.8:g.31899528_31899542dup, NC_000014.8:g.31899542_31899543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
14.
rs1491041089 has merged into rs3033687 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT,CTCTCT,CTCTCTCT
[Show Flanks]
- Chromosome:
- 14:31421818
(GRCh38)
14:31891024
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31421810:TCTCTCTCTCT:TCTCTCT,NC_000014.9:31421810:TCTCTCTCTCT:TCTCTCTCT,NC_000014.9:31421810:TCTCTCTCTCT:TCTCTCTCTCTCT,NC_000014.9:31421810:TCTCTCTCTCT:TCTCTCTCTCTCTCT
- Gene:
- HEATR5A (Varview), HEATR5A-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCT=0./0
(
ALFA)
-=0.1246/624
(1000Genomes)
TC=0.275/11
(GENOME_DK)
- HGVS:
15.
rs1490951135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:31438978
(GRCh38)
14:31908184
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31438977:T:C
- Gene:
- HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
16.
rs1490925366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:31440178
(GRCh38)
14:31909384
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31440177:G:C
- Gene:
- HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490918376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:31434010
(GRCh38)
14:31903216
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31434009:C:T
- Gene:
- HEATR5A-DT (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:
18.
rs1490670207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:31447755
(GRCh38)
14:31916961
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31447754:A:T
- Gene:
- DTD2 (Varview), HEATR5A-DT (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00011/29
(TOPMED)
T=0.000193/27
(GnomAD)
- HGVS:
19.
rs1490545882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:31449052
(GRCh38)
14:31918258
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31449051:C:T
- Gene:
- DTD2 (Varview), HEATR5A-DT (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:
20.
rs1490533287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:31433388
(GRCh38)
14:31902594
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31433387:C:T
- Gene:
- HEATR5A-DT (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: