Links from Gene
Items: 1 to 20 of 18078
1.
rs1491588597 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:18440809
(GRCh38)
6:18441040
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18440808:TA:
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491579127 has merged into rs770011648 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:18409388
(GRCh38)
6:18409619
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:18409375:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000006.12:g.18409388_18409403del, NC_000006.12:g.18409389_18409403del, NC_000006.12:g.18409390_18409403del, NC_000006.12:g.18409391_18409403del, NC_000006.12:g.18409392_18409403del, NC_000006.12:g.18409393_18409403del, NC_000006.12:g.18409395_18409403del, NC_000006.12:g.18409396_18409403del, NC_000006.12:g.18409397_18409403del, NC_000006.12:g.18409398_18409403del, NC_000006.12:g.18409399_18409403del, NC_000006.12:g.18409400_18409403del, NC_000006.12:g.18409401_18409403del, NC_000006.12:g.18409402_18409403del, NC_000006.12:g.18409403del, NC_000006.12:g.18409403dup, NC_000006.12:g.18409402_18409403dup, NC_000006.12:g.18409401_18409403dup, NC_000006.12:g.18409400_18409403dup, NC_000006.12:g.18409399_18409403dup, NC_000006.12:g.18409398_18409403dup, NC_000006.12:g.18409397_18409403dup, NC_000006.12:g.18409396_18409403dup, NC_000006.12:g.18409393_18409403dup, NC_000006.11:g.18409619_18409634del, NC_000006.11:g.18409620_18409634del, NC_000006.11:g.18409621_18409634del, NC_000006.11:g.18409622_18409634del, NC_000006.11:g.18409623_18409634del, NC_000006.11:g.18409624_18409634del, NC_000006.11:g.18409626_18409634del, NC_000006.11:g.18409627_18409634del, NC_000006.11:g.18409628_18409634del, NC_000006.11:g.18409629_18409634del, NC_000006.11:g.18409630_18409634del, NC_000006.11:g.18409631_18409634del, NC_000006.11:g.18409632_18409634del, NC_000006.11:g.18409633_18409634del, NC_000006.11:g.18409634del, NC_000006.11:g.18409634dup, NC_000006.11:g.18409633_18409634dup, NC_000006.11:g.18409632_18409634dup, NC_000006.11:g.18409631_18409634dup, NC_000006.11:g.18409630_18409634dup, NC_000006.11:g.18409629_18409634dup, NC_000006.11:g.18409628_18409634dup, NC_000006.11:g.18409627_18409634dup, NC_000006.11:g.18409624_18409634dup
3.
rs1491540901 has merged into rs58336867 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 6:18463057
(GRCh38)
6:18463288
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18463056:TTTTTTTTT:TTTTTTTT,NC_000006.12:18463056:TTTTTTTTT:TTTTTTTTTT,NC_000006.12:18463056:TTTTTTTTT:TTTTTTTTTTT
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0.003799/38
(
ALFA)
-=0.023169/81
(1000Genomes)
-=0.286671/75879
(TOPMED)
-=0.37891/1405
(TWINSUK)
-=0.387904/1706
(Estonian)
-=0.398287/1535
(ALSPAC)
-=0.45/18
(GENOME_DK)
-=0.463428/849
(Korea1K)
- HGVS:
4.
rs1491529803 has merged into rs10711336 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:18393130
(GRCh38)
6:18393361
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3964/222
(NorthernSweden)
-=0.4417/2212
(1000Genomes)
- HGVS:
NC_000006.12:g.18393130_18393136del, NC_000006.12:g.18393132_18393136del, NC_000006.12:g.18393133_18393136del, NC_000006.12:g.18393134_18393136del, NC_000006.12:g.18393135_18393136del, NC_000006.12:g.18393136del, NC_000006.12:g.18393136dup, NC_000006.12:g.18393135_18393136dup, NC_000006.12:g.18393134_18393136dup, NC_000006.12:g.18393129_18393136dup, NC_000006.11:g.18393361_18393367del, NC_000006.11:g.18393363_18393367del, NC_000006.11:g.18393364_18393367del, NC_000006.11:g.18393365_18393367del, NC_000006.11:g.18393366_18393367del, NC_000006.11:g.18393367del, NC_000006.11:g.18393367dup, NC_000006.11:g.18393366_18393367dup, NC_000006.11:g.18393365_18393367dup, NC_000006.11:g.18393360_18393367dup
5.
rs1491504427 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:18409375
(GRCh38)
6:18409606
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18409374:CA:
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00059/7
(
ALFA)
-=0.0007/10
(TOMMO)
- HGVS:
6.
rs1491479008 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:18429308
(GRCh38)
6:18429539
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18429307:AT:
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
8.
rs1491434872 has merged into rs11393751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18385883
(GRCh38)
6:18386114
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18385870:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:18385870:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:18385870:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:18385870:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:18385870:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:18385870:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:18385870:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.15886/95
(NorthernSweden)
- HGVS:
NC_000006.12:g.18385883_18385886del, NC_000006.12:g.18385884_18385886del, NC_000006.12:g.18385885_18385886del, NC_000006.12:g.18385886del, NC_000006.12:g.18385886dup, NC_000006.12:g.18385885_18385886dup, NC_000006.12:g.18385877_18385886dup, NC_000006.11:g.18386114_18386117del, NC_000006.11:g.18386115_18386117del, NC_000006.11:g.18386116_18386117del, NC_000006.11:g.18386117del, NC_000006.11:g.18386117dup, NC_000006.11:g.18386116_18386117dup, NC_000006.11:g.18386108_18386117dup
9.
rs1491370427 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:18425055
(GRCh38)
6:18425287
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18425055::T
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000066/9
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
10.
rs1491359975 has merged into rs1197413176 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18411513
(GRCh38)
6:18411744
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18411497:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTT=0.00013/3
(TOMMO)
- HGVS:
NC_000006.12:g.18411513_18411521del, NC_000006.12:g.18411514_18411521del, NC_000006.12:g.18411515_18411521del, NC_000006.12:g.18411516_18411521del, NC_000006.12:g.18411517_18411521del, NC_000006.12:g.18411518_18411521del, NC_000006.12:g.18411519_18411521del, NC_000006.12:g.18411520_18411521del, NC_000006.12:g.18411521del, NC_000006.12:g.18411521dup, NC_000006.12:g.18411520_18411521dup, NC_000006.12:g.18411519_18411521dup, NC_000006.12:g.18411517_18411521dup, NC_000006.12:g.18411515_18411521dup, NC_000006.12:g.18411514_18411521dup, NC_000006.12:g.18411513_18411521dup, NC_000006.12:g.18411512_18411521dup, NC_000006.12:g.18411511_18411521dup, NC_000006.12:g.18411510_18411521dup, NC_000006.12:g.18411508_18411521dup, NC_000006.12:g.18411507_18411521dup, NC_000006.12:g.18411506_18411521dup, NC_000006.11:g.18411744_18411752del, NC_000006.11:g.18411745_18411752del, NC_000006.11:g.18411746_18411752del, NC_000006.11:g.18411747_18411752del, NC_000006.11:g.18411748_18411752del, NC_000006.11:g.18411749_18411752del, NC_000006.11:g.18411750_18411752del, NC_000006.11:g.18411751_18411752del, NC_000006.11:g.18411752del, NC_000006.11:g.18411752dup, NC_000006.11:g.18411751_18411752dup, NC_000006.11:g.18411750_18411752dup, NC_000006.11:g.18411748_18411752dup, NC_000006.11:g.18411746_18411752dup, NC_000006.11:g.18411745_18411752dup, NC_000006.11:g.18411744_18411752dup, NC_000006.11:g.18411743_18411752dup, NC_000006.11:g.18411742_18411752dup, NC_000006.11:g.18411741_18411752dup, NC_000006.11:g.18411739_18411752dup, NC_000006.11:g.18411738_18411752dup, NC_000006.11:g.18411737_18411752dup
11.
rs1491319187 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATT
[Show Flanks]
- Chromosome:
- 6:18422809
(GRCh38)
6:18423041
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18422809:T:TCATT
- Gene:
- RNF144B (Varview), LOC124901271 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCATT=0./0
(
ALFA)
TCAT=0.000011/3
(TOPMED)
- HGVS:
12.
rs1491284620 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGG
[Show Flanks]
- Chromosome:
- 6:18425056
(GRCh38)
6:18425287
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18425054:GGG:G,NC_000006.12:18425054:GGG:GGGG
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
-=0.000081/11
(GnomAD)
- HGVS:
13.
rs1491283691 has merged into rs10711336 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:18393130
(GRCh38)
6:18393361
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:18393119:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3964/222
(NorthernSweden)
-=0.4417/2212
(1000Genomes)
- HGVS:
NC_000006.12:g.18393130_18393136del, NC_000006.12:g.18393132_18393136del, NC_000006.12:g.18393133_18393136del, NC_000006.12:g.18393134_18393136del, NC_000006.12:g.18393135_18393136del, NC_000006.12:g.18393136del, NC_000006.12:g.18393136dup, NC_000006.12:g.18393135_18393136dup, NC_000006.12:g.18393134_18393136dup, NC_000006.12:g.18393129_18393136dup, NC_000006.11:g.18393361_18393367del, NC_000006.11:g.18393363_18393367del, NC_000006.11:g.18393364_18393367del, NC_000006.11:g.18393365_18393367del, NC_000006.11:g.18393366_18393367del, NC_000006.11:g.18393367del, NC_000006.11:g.18393367dup, NC_000006.11:g.18393366_18393367dup, NC_000006.11:g.18393365_18393367dup, NC_000006.11:g.18393360_18393367dup
15.
rs1491264352 has merged into rs774330906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 6:18421273
(GRCh38)
6:18421504
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18421270:TATA:TA,NC_000006.12:18421270:TATA:TATATA
- Gene:
- RNF144B (Varview), LOC124901271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0.000597/7
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000549/1
(Korea1K)
-=0.000814/14
(TOMMO)
-=0.011903/879
(GnomAD)
TA=0.447883/2243
(1000Genomes)
- HGVS:
16.
rs1491249694 has merged into rs33972716 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18453146
(GRCh38)
6:18453377
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:18453137:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.3656/1831
(1000Genomes)
-=0.3684/14
(GENOME_DK)
- HGVS:
NC_000006.12:g.18453146_18453156del, NC_000006.12:g.18453147_18453156del, NC_000006.12:g.18453148_18453156del, NC_000006.12:g.18453150_18453156del, NC_000006.12:g.18453153_18453156del, NC_000006.12:g.18453154_18453156del, NC_000006.12:g.18453155_18453156del, NC_000006.12:g.18453156del, NC_000006.12:g.18453156dup, NC_000006.12:g.18453155_18453156dup, NC_000006.12:g.18453154_18453156dup, NC_000006.12:g.18453153_18453156dup, NC_000006.12:g.18453152_18453156dup, NC_000006.12:g.18453151_18453156dup, NC_000006.12:g.18453150_18453156dup, NC_000006.12:g.18453149_18453156dup, NC_000006.12:g.18453148_18453156dup, NC_000006.11:g.18453377_18453387del, NC_000006.11:g.18453378_18453387del, NC_000006.11:g.18453379_18453387del, NC_000006.11:g.18453381_18453387del, NC_000006.11:g.18453384_18453387del, NC_000006.11:g.18453385_18453387del, NC_000006.11:g.18453386_18453387del, NC_000006.11:g.18453387del, NC_000006.11:g.18453387dup, NC_000006.11:g.18453386_18453387dup, NC_000006.11:g.18453385_18453387dup, NC_000006.11:g.18453384_18453387dup, NC_000006.11:g.18453383_18453387dup, NC_000006.11:g.18453382_18453387dup, NC_000006.11:g.18453381_18453387dup, NC_000006.11:g.18453380_18453387dup, NC_000006.11:g.18453379_18453387dup
17.
rs1491237489 has merged into rs140078170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18467651
(GRCh38)
6:18467882
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18467647:TTTTT:TTT,NC_000006.12:18467647:TTTTT:TTTTTT,NC_000006.12:18467647:TTTTT:TTTTTTT,NC_000006.12:18467647:TTTTT:TTTTTTTTTTTTTT,NC_000006.12:18467647:TTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0.11459/1296
(
ALFA)
T=0.23579/141
(NorthernSweden)
T=0.26452/1694
(1000Genomes)
T=0.375/15
(GENOME_DK)
- HGVS:
NC_000006.12:g.18467651_18467652del, NC_000006.12:g.18467652dup, NC_000006.12:g.18467651_18467652dup, NC_000006.12:g.18467652_18467653insTTTTTTTTT, NC_000006.12:g.18467652_18467653insTTTTTTTTTTTT, NC_000006.11:g.18467882_18467883del, NC_000006.11:g.18467883dup, NC_000006.11:g.18467882_18467883dup, NC_000006.11:g.18467883_18467884insTTTTTTTTT, NC_000006.11:g.18467883_18467884insTTTTTTTTTTTT, NM_182757.4:c.*2584_*2585del, NM_182757.4:c.*2585dup, NM_182757.4:c.*2584_*2585dup, NM_182757.4:c.*2585_*2586insTTTTTTTTT, NM_182757.4:c.*2585_*2586insTTTTTTTTTTTT, NM_182757.3:c.*2584_*2585del, NM_182757.3:c.*2585dup, NM_182757.3:c.*2584_*2585dup, NM_182757.3:c.*2585_*2586insTTTTTTTTT, NM_182757.3:c.*2585_*2586insTTTTTTTTTTTT, XM_047418594.1:c.*2584_*2585del, XM_047418594.1:c.*2585dup, XM_047418594.1:c.*2584_*2585dup, XM_047418594.1:c.*2585_*2586insTTTTTTTTT, XM_047418594.1:c.*2585_*2586insTTTTTTTTTTTT
18.
rs1491233847 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:18423767
(GRCh38)
6:18423998
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18423766:CT:
- Gene:
- RNF144B (Varview), LOC124901271 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00778/30
(ALSPAC)
-=0.00809/30
(TWINSUK)
- HGVS:
19.
rs1491226222 has merged into rs66527549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:18427266
(GRCh38)
6:18427497
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18427256:TTTTTTTTTTT:TTTTTTTTT,NC_000006.12:18427256:TTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:18427256:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:18427256:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:18427256:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:18427256:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0.0434/298
(
ALFA)
-=0.1472/436
(1000Genomes)
- HGVS:
NC_000006.12:g.18427266_18427267del, NC_000006.12:g.18427267del, NC_000006.12:g.18427267dup, NC_000006.12:g.18427266_18427267dup, NC_000006.12:g.18427262_18427267dup, NC_000006.12:g.18427267_18427268insTTTTTTTTTTTTT, NC_000006.11:g.18427497_18427498del, NC_000006.11:g.18427498del, NC_000006.11:g.18427498dup, NC_000006.11:g.18427497_18427498dup, NC_000006.11:g.18427493_18427498dup, NC_000006.11:g.18427498_18427499insTTTTTTTTTTTTT
20.
rs1491215297 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA
[Show Flanks]
- Chromosome:
- 6:18411498
(GRCh38)
6:18411730
(GRCh37)
- Canonical SPDI:
- NC_000006.12:18411498::A,NC_000006.12:18411498::ATA,NC_000006.12:18411498::ATATA,NC_000006.12:18411498::ATATATA,NC_000006.12:18411498::ATATATATA,NC_000006.12:18411498::ATATATATATA,NC_000006.12:18411498::ATATATATATATA,NC_000006.12:18411498::ATATATATATATATA
- Gene:
- RNF144B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
A=0.00022/5
(TOMMO)
- HGVS:
NC_000006.12:g.18411498_18411499insA, NC_000006.12:g.18411498_18411499insATA, NC_000006.12:g.18411498_18411499insATATA, NC_000006.12:g.18411498_18411499insATATATA, NC_000006.12:g.18411498_18411499insATATATATA, NC_000006.12:g.18411498_18411499insATATATATATA, NC_000006.12:g.18411498_18411499insATATATATATATA, NC_000006.12:g.18411498_18411499insATATATATATATATA, NC_000006.11:g.18411729_18411730insA, NC_000006.11:g.18411729_18411730insATA, NC_000006.11:g.18411729_18411730insATATA, NC_000006.11:g.18411729_18411730insATATATA, NC_000006.11:g.18411729_18411730insATATATATA, NC_000006.11:g.18411729_18411730insATATATATATA, NC_000006.11:g.18411729_18411730insATATATATATATA, NC_000006.11:g.18411729_18411730insATATATATATATATA