Links from Gene
Items: 1 to 20 of 4953
1.
rs1491557570 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 18:80033197
(GRCh38)
18:77793198
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80033197:T:TT
- Gene:
- TXNL4A (Varview), RBFA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
2.
rs1490971998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:80048149
(GRCh38)
18:77808149
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80048148:A:G
- Gene:
- RBFA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490883051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:80041912
(GRCh38)
18:77801912
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80041911:G:C
- Gene:
- RBFA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
4.
rs1490439733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 18:80033852
(GRCh38)
18:77793852
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80033851:T:C,NC_000018.10:80033851:T:G
- Gene:
- TXNL4A (Varview), RBFA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000214/4
(TOMMO)
G=0.000569/1
(Korea1K)
G=0.001772/5
(KOREAN)
- HGVS:
NC_000018.10:g.80033852T>C, NC_000018.10:g.80033852T>G, NC_000018.9:g.77793852T>C, NC_000018.9:g.77793852T>G, NG_042061.1:g.5084A>G, NG_042061.1:g.5084A>C, NM_001305563.2:c.-119A>G, NM_001305563.2:c.-119A>C, NM_001305563.1:c.-119A>G, NM_001305563.1:c.-119A>C, NM_001305564.2:c.-62A>G, NM_001305564.2:c.-62A>C, NM_001305564.1:c.-62A>G, NM_001305564.1:c.-62A>C
5.
rs1490275075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 18:80034434
(GRCh38)
18:77794434
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80034433:A:G,NC_000018.10:80034433:A:T
- Gene:
- TXNL4A (Varview), RBFA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.80034434A>G, NC_000018.10:g.80034434A>T, NC_000018.9:g.77794434A>G, NC_000018.9:g.77794434A>T, NG_042061.1:g.4502T>C, NG_042061.1:g.4502T>A, NM_024805.3:c.-62A>G, NM_024805.3:c.-62A>T, NM_024805.2:c.-62A>G, NM_024805.2:c.-62A>T, NM_001171967.2:c.-62A>G, NM_001171967.2:c.-62A>T, NM_001171967.1:c.-62A>G, NM_001171967.1:c.-62A>T
6.
rs1490226430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:80040191
(GRCh38)
18:77800191
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80040190:C:T
- Gene:
- RBFA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.00003/4
(GnomAD)
T=0.000342/1
(KOREAN)
T=0.000546/1
(Korea1K)
T=0.002831/47
(TOMMO)
- HGVS:
8.
rs1490066831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:80041613
(GRCh38)
18:77801613
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80041612:T:C
- Gene:
- RBFA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489893833 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 18:80034376
(GRCh38)
18:77794376
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80034375:G:
- Gene:
- TXNL4A (Varview), RBFA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489311864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:80033490
(GRCh38)
18:77793490
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80033489:G:A
- Gene:
- TXNL4A (Varview), RBFA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489273733 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGGTGG>-
[Show Flanks]
- Chromosome:
- 18:80042631
(GRCh38)
18:77802631
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80042628:GGTGTGGTGG:GG
- Gene:
- RBFA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489263064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:80034150
(GRCh38)
18:77794150
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80034149:T:C
- Gene:
- TXNL4A (Varview), RBFA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00759/90
(
ALFA)
C=0.0002/20
(GnomAD)
C=0.00227/4
(Korea1K)
C=0.03956/111
(KOREAN)
- HGVS:
14.
rs1489222891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:80044587
(GRCh38)
18:77804587
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80044586:C:T
- Gene:
- RBFA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000078/11
(GnomAD)
T=0.000125/33
(TOPMED)
- HGVS:
16.
rs1489122490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:80040562
(GRCh38)
18:77800562
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80040561:T:C
- Gene:
- RBFA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1489121136 has merged into rs71338083 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:80040250
(GRCh38)
18:77800250
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:80040239:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RBFA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.3456/1731
(1000Genomes)
- HGVS:
NC_000018.10:g.80040250_80040258del, NC_000018.10:g.80040252_80040258del, NC_000018.10:g.80040253_80040258del, NC_000018.10:g.80040254_80040258del, NC_000018.10:g.80040255_80040258del, NC_000018.10:g.80040256_80040258del, NC_000018.10:g.80040257_80040258del, NC_000018.10:g.80040258del, NC_000018.10:g.80040258dup, NC_000018.10:g.80040257_80040258dup, NC_000018.10:g.80040256_80040258dup, NC_000018.10:g.80040255_80040258dup, NC_000018.10:g.80040254_80040258dup, NC_000018.10:g.80040253_80040258dup, NC_000018.10:g.80040252_80040258dup, NC_000018.10:g.80040251_80040258dup, NC_000018.10:g.80040250_80040258dup, NC_000018.10:g.80040249_80040258dup, NC_000018.10:g.80040248_80040258dup, NC_000018.10:g.80040247_80040258dup, NC_000018.10:g.80040246_80040258dup, NC_000018.10:g.80040245_80040258dup, NC_000018.10:g.80040244_80040258dup, NC_000018.10:g.80040243_80040258dup, NC_000018.10:g.80040242_80040258dup, NC_000018.10:g.80040241_80040258dup, NC_000018.10:g.80040240_80040258dup, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.80040258_80040259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800250_77800258del, NC_000018.9:g.77800252_77800258del, NC_000018.9:g.77800253_77800258del, NC_000018.9:g.77800254_77800258del, NC_000018.9:g.77800255_77800258del, NC_000018.9:g.77800256_77800258del, NC_000018.9:g.77800257_77800258del, NC_000018.9:g.77800258del, NC_000018.9:g.77800258dup, NC_000018.9:g.77800257_77800258dup, NC_000018.9:g.77800256_77800258dup, NC_000018.9:g.77800255_77800258dup, NC_000018.9:g.77800254_77800258dup, NC_000018.9:g.77800253_77800258dup, NC_000018.9:g.77800252_77800258dup, NC_000018.9:g.77800251_77800258dup, NC_000018.9:g.77800250_77800258dup, NC_000018.9:g.77800249_77800258dup, NC_000018.9:g.77800248_77800258dup, NC_000018.9:g.77800247_77800258dup, NC_000018.9:g.77800246_77800258dup, NC_000018.9:g.77800245_77800258dup, NC_000018.9:g.77800244_77800258dup, NC_000018.9:g.77800243_77800258dup, NC_000018.9:g.77800242_77800258dup, NC_000018.9:g.77800241_77800258dup, NC_000018.9:g.77800240_77800258dup, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.77800258_77800259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
18.
rs1488562663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 18:80047931
(GRCh38)
18:77807931
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80047930:T:A,NC_000018.10:80047930:T:C,NC_000018.10:80047930:T:G
- Gene:
- RBFA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.80047931T>A, NC_000018.10:g.80047931T>C, NC_000018.10:g.80047931T>G, NC_000018.9:g.77807931T>A, NC_000018.9:g.77807931T>C, NC_000018.9:g.77807931T>G, NM_024805.3:c.*1776T>A, NM_024805.3:c.*1776T>C, NM_024805.3:c.*1776T>G, NM_024805.2:c.*1776T>A, NM_024805.2:c.*1776T>C, NM_024805.2:c.*1776T>G, NM_001171967.2:c.*1994T>A, NM_001171967.2:c.*1994T>C, NM_001171967.2:c.*1994T>G, NM_001171967.1:c.*1994T>A, NM_001171967.1:c.*1994T>C, NM_001171967.1:c.*1994T>G
19.
rs1488386861 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 18:80032934
(GRCh38)
18:77792934
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80032931:TTTT:TT
- Gene:
- TXNL4A (Varview), RBFA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0.000071/1
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000037/4
(GnomAD)
- HGVS:
20.
rs1488361084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:80034198
(GRCh38)
18:77794198
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80034197:C:T
- Gene:
- TXNL4A (Varview), RBFA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: