Links from Gene
Items: 1 to 20 of 1000
4.
rs1491476205 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTGTGTG
[Show Flanks]
- Chromosome:
- 17:32149636
(GRCh38)
17:30476656
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32149636:GTGTGTG:GTGTGTGAGTGTGTG
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTGAGTGTGTG=0./0
(
ALFA)
GTGTGTGA=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491441750 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:32168020
(GRCh38)
17:30495040
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32168020:CCCCC:CCCCCC
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCCC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491378513 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 17:32168020
(GRCh38)
17:30495039
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32168019:AC:
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
7.
rs1491365019 has merged into rs1300585666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 17:32149647
(GRCh38)
17:30476666
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32149635:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.32149637GT[5], NC_000017.11:g.32149637GT[6], NC_000017.11:g.32149637GT[7], NC_000017.11:g.32149637GT[8], NC_000017.11:g.32149637GT[9], NC_000017.11:g.32149637GT[10], NC_000017.11:g.32149637GT[11], NC_000017.11:g.32149637GT[12], NC_000017.11:g.32149637GT[14], NC_000017.11:g.32149637GT[15], NC_000017.11:g.32149637GT[16], NC_000017.11:g.32149637GT[17], NC_000017.11:g.32149637GT[18], NC_000017.11:g.32149637GT[19], NC_000017.11:g.32149637GT[20], NC_000017.11:g.32149637GT[21], NC_000017.11:g.32149637GT[22], NC_000017.11:g.32149637GT[23], NC_000017.11:g.32149637GT[24], NC_000017.11:g.32149637GT[25], NC_000017.11:g.32149637GT[26], NC_000017.11:g.32149637GT[27], NC_000017.11:g.32149637GT[28], NC_000017.11:g.32149637GT[29], NC_000017.11:g.32149637GT[30], NC_000017.10:g.30476656GT[5], NC_000017.10:g.30476656GT[6], NC_000017.10:g.30476656GT[7], NC_000017.10:g.30476656GT[8], NC_000017.10:g.30476656GT[9], NC_000017.10:g.30476656GT[10], NC_000017.10:g.30476656GT[11], NC_000017.10:g.30476656GT[12], NC_000017.10:g.30476656GT[14], NC_000017.10:g.30476656GT[15], NC_000017.10:g.30476656GT[16], NC_000017.10:g.30476656GT[17], NC_000017.10:g.30476656GT[18], NC_000017.10:g.30476656GT[19], NC_000017.10:g.30476656GT[20], NC_000017.10:g.30476656GT[21], NC_000017.10:g.30476656GT[22], NC_000017.10:g.30476656GT[23], NC_000017.10:g.30476656GT[24], NC_000017.10:g.30476656GT[25], NC_000017.10:g.30476656GT[26], NC_000017.10:g.30476656GT[27], NC_000017.10:g.30476656GT[28], NC_000017.10:g.30476656GT[29], NC_000017.10:g.30476656GT[30]
8.
rs1491355119 has merged into rs1361799033 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 17:32224353
(GRCh38)
17:30551372
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32224352:AAAAAAA:AAAAAA,NC_000017.11:32224352:AAAAAAA:AAAAAAAA
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1491345113 has merged into rs60313146 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:32151891
(GRCh38)
17:30478910
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32151881:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RHOT1 (Varview), ARGFXP2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.32151891_32151901del, NC_000017.11:g.32151892_32151901del, NC_000017.11:g.32151893_32151901del, NC_000017.11:g.32151895_32151901del, NC_000017.11:g.32151896_32151901del, NC_000017.11:g.32151898_32151901del, NC_000017.11:g.32151899_32151901del, NC_000017.11:g.32151900_32151901del, NC_000017.11:g.32151901del, NC_000017.11:g.32151901dup, NC_000017.11:g.32151900_32151901dup, NC_000017.11:g.32151899_32151901dup, NC_000017.11:g.32151898_32151901dup, NC_000017.11:g.32151897_32151901dup, NC_000017.11:g.32151889_32151901dup, NC_000017.10:g.30478910_30478920del, NC_000017.10:g.30478911_30478920del, NC_000017.10:g.30478912_30478920del, NC_000017.10:g.30478914_30478920del, NC_000017.10:g.30478915_30478920del, NC_000017.10:g.30478917_30478920del, NC_000017.10:g.30478918_30478920del, NC_000017.10:g.30478919_30478920del, NC_000017.10:g.30478920del, NC_000017.10:g.30478920dup, NC_000017.10:g.30478919_30478920dup, NC_000017.10:g.30478918_30478920dup, NC_000017.10:g.30478917_30478920dup, NC_000017.10:g.30478916_30478920dup, NC_000017.10:g.30478908_30478920dup
11.
rs1491322268 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:32165336
(GRCh38)
17:30492355
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32165335:CA:
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00071/19
(TOMMO)
- HGVS:
12.
rs1491315175 has merged into rs67350824 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:32141031
(GRCh38)
17:30468050
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:32141022:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RHOT1 (Varview), LOC105371730 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.32141031_32141041del, NC_000017.11:g.32141034_32141041del, NC_000017.11:g.32141035_32141041del, NC_000017.11:g.32141036_32141041del, NC_000017.11:g.32141037_32141041del, NC_000017.11:g.32141038_32141041del, NC_000017.11:g.32141039_32141041del, NC_000017.11:g.32141040_32141041del, NC_000017.11:g.32141041del, NC_000017.11:g.32141041dup, NC_000017.11:g.32141040_32141041dup, NC_000017.11:g.32141039_32141041dup, NC_000017.11:g.32141038_32141041dup, NC_000017.10:g.30468050_30468060del, NC_000017.10:g.30468053_30468060del, NC_000017.10:g.30468054_30468060del, NC_000017.10:g.30468055_30468060del, NC_000017.10:g.30468056_30468060del, NC_000017.10:g.30468057_30468060del, NC_000017.10:g.30468058_30468060del, NC_000017.10:g.30468059_30468060del, NC_000017.10:g.30468060del, NC_000017.10:g.30468060dup, NC_000017.10:g.30468059_30468060dup, NC_000017.10:g.30468058_30468060dup, NC_000017.10:g.30468057_30468060dup
14.
rs1491309950 has merged into rs35775998 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:32180662
(GRCh38)
17:30507681
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32180654:AAAAAAAAAAA:AAAAAAA,NC_000017.11:32180654:AAAAAAAAAAA:AAAAAAAAA,NC_000017.11:32180654:AAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:32180654:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:32180654:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.00316/53
(TOMMO)
- HGVS:
15.
rs1491302500 has merged into rs71144812 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:32206204
(GRCh38)
17:30533223
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32206192:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000017.11:g.32206204_32206222del, NC_000017.11:g.32206205_32206222del, NC_000017.11:g.32206206_32206222del, NC_000017.11:g.32206207_32206222del, NC_000017.11:g.32206208_32206222del, NC_000017.11:g.32206209_32206222del, NC_000017.11:g.32206210_32206222del, NC_000017.11:g.32206211_32206222del, NC_000017.11:g.32206212_32206222del, NC_000017.11:g.32206213_32206222del, NC_000017.11:g.32206214_32206222del, NC_000017.11:g.32206215_32206222del, NC_000017.11:g.32206216_32206222del, NC_000017.11:g.32206217_32206222del, NC_000017.11:g.32206219_32206222del, NC_000017.11:g.32206220_32206222del, NC_000017.11:g.32206221_32206222del, NC_000017.11:g.32206222del, NC_000017.11:g.32206222dup, NC_000017.11:g.32206221_32206222dup, NC_000017.11:g.32206220_32206222dup, NC_000017.11:g.32206219_32206222dup, NC_000017.11:g.32206218_32206222dup, NC_000017.11:g.32206217_32206222dup, NC_000017.11:g.32206216_32206222dup, NC_000017.11:g.32206215_32206222dup, NC_000017.11:g.32206214_32206222dup, NC_000017.11:g.32206213_32206222dup, NC_000017.11:g.32206212_32206222dup, NC_000017.11:g.32206211_32206222dup, NC_000017.11:g.32206210_32206222dup, NC_000017.11:g.32206208_32206222dup, NC_000017.11:g.32206206_32206222dup, NC_000017.11:g.32206205_32206222dup, NC_000017.11:g.32206203_32206222dup, NC_000017.10:g.30533223_30533241del, NC_000017.10:g.30533224_30533241del, NC_000017.10:g.30533225_30533241del, NC_000017.10:g.30533226_30533241del, NC_000017.10:g.30533227_30533241del, NC_000017.10:g.30533228_30533241del, NC_000017.10:g.30533229_30533241del, NC_000017.10:g.30533230_30533241del, NC_000017.10:g.30533231_30533241del, NC_000017.10:g.30533232_30533241del, NC_000017.10:g.30533233_30533241del, NC_000017.10:g.30533234_30533241del, NC_000017.10:g.30533235_30533241del, NC_000017.10:g.30533236_30533241del, NC_000017.10:g.30533238_30533241del, NC_000017.10:g.30533239_30533241del, NC_000017.10:g.30533240_30533241del, NC_000017.10:g.30533241del, NC_000017.10:g.30533241dup, NC_000017.10:g.30533240_30533241dup, NC_000017.10:g.30533239_30533241dup, NC_000017.10:g.30533238_30533241dup, NC_000017.10:g.30533237_30533241dup, NC_000017.10:g.30533236_30533241dup, NC_000017.10:g.30533235_30533241dup, NC_000017.10:g.30533234_30533241dup, NC_000017.10:g.30533233_30533241dup, NC_000017.10:g.30533232_30533241dup, NC_000017.10:g.30533231_30533241dup, NC_000017.10:g.30533230_30533241dup, NC_000017.10:g.30533229_30533241dup, NC_000017.10:g.30533227_30533241dup, NC_000017.10:g.30533225_30533241dup, NC_000017.10:g.30533224_30533241dup, NC_000017.10:g.30533222_30533241dup
17.
rs1491177232 has merged into rs988490436 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATATA
[Show Flanks]
- Chromosome:
- 17:32149762
(GRCh38)
17:30476781
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32149752:ATATATATATA:ATATATATA,NC_000017.11:32149752:ATATATATATA:ATATATATATATA,NC_000017.11:32149752:ATATATATATA:ATATATATATATATATA
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATA=0./0
(
ALFA)
ATATAT=0.00003/8
(TOPMED)
- HGVS:
18.
rs1491166743 has merged into rs940216011 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:32203280
(GRCh38)
17:30530299
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32203269:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.32203280_32203293del, NC_000017.11:g.32203281_32203293del, NC_000017.11:g.32203282_32203293del, NC_000017.11:g.32203283_32203293del, NC_000017.11:g.32203284_32203293del, NC_000017.11:g.32203285_32203293del, NC_000017.11:g.32203287_32203293del, NC_000017.11:g.32203288_32203293del, NC_000017.11:g.32203289_32203293del, NC_000017.11:g.32203290_32203293del, NC_000017.11:g.32203291_32203293del, NC_000017.11:g.32203292_32203293del, NC_000017.11:g.32203293del, NC_000017.11:g.32203293dup, NC_000017.11:g.32203292_32203293dup, NC_000017.11:g.32203291_32203293dup, NC_000017.11:g.32203290_32203293dup, NC_000017.11:g.32203289_32203293dup, NC_000017.11:g.32203287_32203293dup, NC_000017.11:g.32203286_32203293dup, NC_000017.11:g.32203285_32203293dup, NC_000017.11:g.32203284_32203293dup, NC_000017.11:g.32203283_32203293dup, NC_000017.11:g.32203282_32203293dup, NC_000017.11:g.32203281_32203293dup, NC_000017.11:g.32203280_32203293dup, NC_000017.11:g.32203278_32203293dup, NC_000017.11:g.32203277_32203293dup, NC_000017.11:g.32203276_32203293dup, NC_000017.11:g.32203275_32203293dup, NC_000017.11:g.32203273_32203293dup, NC_000017.10:g.30530299_30530312del, NC_000017.10:g.30530300_30530312del, NC_000017.10:g.30530301_30530312del, NC_000017.10:g.30530302_30530312del, NC_000017.10:g.30530303_30530312del, NC_000017.10:g.30530304_30530312del, NC_000017.10:g.30530306_30530312del, NC_000017.10:g.30530307_30530312del, NC_000017.10:g.30530308_30530312del, NC_000017.10:g.30530309_30530312del, NC_000017.10:g.30530310_30530312del, NC_000017.10:g.30530311_30530312del, NC_000017.10:g.30530312del, NC_000017.10:g.30530312dup, NC_000017.10:g.30530311_30530312dup, NC_000017.10:g.30530310_30530312dup, NC_000017.10:g.30530309_30530312dup, NC_000017.10:g.30530308_30530312dup, NC_000017.10:g.30530306_30530312dup, NC_000017.10:g.30530305_30530312dup, NC_000017.10:g.30530304_30530312dup, NC_000017.10:g.30530303_30530312dup, NC_000017.10:g.30530302_30530312dup, NC_000017.10:g.30530301_30530312dup, NC_000017.10:g.30530300_30530312dup, NC_000017.10:g.30530299_30530312dup, NC_000017.10:g.30530297_30530312dup, NC_000017.10:g.30530296_30530312dup, NC_000017.10:g.30530295_30530312dup, NC_000017.10:g.30530294_30530312dup, NC_000017.10:g.30530292_30530312dup
19.
rs1491158607 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 17:32224352
(GRCh38)
17:30551371
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32224351:GA:
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
20.
rs1491108043 has merged into rs1162059092 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 17:32149599
(GRCh38)
17:30476618
(GRCh37)
- Canonical SPDI:
- NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:32149591:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- RHOT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.32149593AT[3], NC_000017.11:g.32149593AT[4], NC_000017.11:g.32149593AT[5], NC_000017.11:g.32149593AT[6], NC_000017.11:g.32149593AT[7], NC_000017.11:g.32149593AT[8], NC_000017.11:g.32149593AT[9], NC_000017.11:g.32149593AT[10], NC_000017.11:g.32149593AT[11], NC_000017.11:g.32149593AT[12], NC_000017.11:g.32149593AT[13], NC_000017.11:g.32149593AT[14], NC_000017.11:g.32149593AT[15], NC_000017.11:g.32149593AT[16], NC_000017.11:g.32149593AT[17], NC_000017.11:g.32149593AT[18], NC_000017.11:g.32149593AT[19], NC_000017.11:g.32149593AT[20], NC_000017.11:g.32149593AT[21], NC_000017.11:g.32149593AT[23], NC_000017.11:g.32149593AT[24], NC_000017.11:g.32149593AT[25], NC_000017.11:g.32149593AT[26], NC_000017.11:g.32149593AT[27], NC_000017.11:g.32149593AT[28], NC_000017.11:g.32149593AT[29], NC_000017.11:g.32149593AT[30], NC_000017.11:g.32149593AT[31], NC_000017.11:g.32149593AT[32], NC_000017.11:g.32149593AT[33], NC_000017.10:g.30476612AT[3], NC_000017.10:g.30476612AT[4], NC_000017.10:g.30476612AT[5], NC_000017.10:g.30476612AT[6], NC_000017.10:g.30476612AT[7], NC_000017.10:g.30476612AT[8], NC_000017.10:g.30476612AT[9], NC_000017.10:g.30476612AT[10], NC_000017.10:g.30476612AT[11], NC_000017.10:g.30476612AT[12], NC_000017.10:g.30476612AT[13], NC_000017.10:g.30476612AT[14], NC_000017.10:g.30476612AT[15], NC_000017.10:g.30476612AT[16], NC_000017.10:g.30476612AT[17], NC_000017.10:g.30476612AT[18], NC_000017.10:g.30476612AT[19], NC_000017.10:g.30476612AT[20], NC_000017.10:g.30476612AT[21], NC_000017.10:g.30476612AT[23], NC_000017.10:g.30476612AT[24], NC_000017.10:g.30476612AT[25], NC_000017.10:g.30476612AT[26], NC_000017.10:g.30476612AT[27], NC_000017.10:g.30476612AT[28], NC_000017.10:g.30476612AT[29], NC_000017.10:g.30476612AT[30], NC_000017.10:g.30476612AT[31], NC_000017.10:g.30476612AT[32], NC_000017.10:g.30476612AT[33]