Links from Gene
Items: 1 to 20 of 1000
1.
rs1491465919 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:39507942
(GRCh38)
4:39509562
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39507941:CA:
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00497/59
(
ALFA)
-=0.00184/52
(TOMMO)
- HGVS:
2.
rs1491458441 has merged into rs1179305904 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:39521079
(GRCh38)
4:39522699
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:39521069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.02568/15
(NorthernSweden)
- HGVS:
NC_000004.12:g.39521079_39521090del, NC_000004.12:g.39521080_39521090del, NC_000004.12:g.39521081_39521090del, NC_000004.12:g.39521082_39521090del, NC_000004.12:g.39521083_39521090del, NC_000004.12:g.39521084_39521090del, NC_000004.12:g.39521085_39521090del, NC_000004.12:g.39521086_39521090del, NC_000004.12:g.39521087_39521090del, NC_000004.12:g.39521088_39521090del, NC_000004.12:g.39521089_39521090del, NC_000004.12:g.39521090del, NC_000004.12:g.39521090dup, NC_000004.12:g.39521089_39521090dup, NC_000004.12:g.39521088_39521090dup, NC_000004.12:g.39521087_39521090dup, NC_000004.12:g.39521086_39521090dup, NC_000004.12:g.39521085_39521090dup, NC_000004.12:g.39521084_39521090dup, NC_000004.12:g.39521083_39521090dup, NC_000004.12:g.39521082_39521090dup, NC_000004.12:g.39521076_39521090dup, NC_000004.12:g.39521090_39521091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.39522699_39522710del, NC_000004.11:g.39522700_39522710del, NC_000004.11:g.39522701_39522710del, NC_000004.11:g.39522702_39522710del, NC_000004.11:g.39522703_39522710del, NC_000004.11:g.39522704_39522710del, NC_000004.11:g.39522705_39522710del, NC_000004.11:g.39522706_39522710del, NC_000004.11:g.39522707_39522710del, NC_000004.11:g.39522708_39522710del, NC_000004.11:g.39522709_39522710del, NC_000004.11:g.39522710del, NC_000004.11:g.39522710dup, NC_000004.11:g.39522709_39522710dup, NC_000004.11:g.39522708_39522710dup, NC_000004.11:g.39522707_39522710dup, NC_000004.11:g.39522706_39522710dup, NC_000004.11:g.39522705_39522710dup, NC_000004.11:g.39522704_39522710dup, NC_000004.11:g.39522703_39522710dup, NC_000004.11:g.39522702_39522710dup, NC_000004.11:g.39522696_39522710dup, NC_000004.11:g.39522710_39522711insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491349512 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:39500102
(GRCh38)
4:39501722
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39500101:CA:
- Gene:
- UGDH (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000004.12:g.39500102_39500103del, NC_000004.11:g.39501722_39501723del, XM_005262667.4:c.*40_*41del, XM_005262667.3:c.*40_*41del, XM_005262667.2:c.*40_*41del, XM_005262667.1:c.*40_*41del, NM_003359.4:c.*40_*41del, NM_003359.3:c.*40_*41del, NM_001184701.2:c.*40_*41del, NM_001184701.1:c.*40_*41del, NM_001184700.2:c.*40_*41del, NM_001184700.1:c.*40_*41del
4.
rs1491305534 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:39521069
(GRCh38)
4:39522689
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39521068:CA:
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00329/39
(
ALFA)
-=0.00241/40
(TOMMO)
- HGVS:
5.
rs1491303018 has merged into rs11284301 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:39500664
(GRCh38)
4:39502284
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.4595/2301
(1000Genomes)
- HGVS:
NC_000004.12:g.39500664_39500671del, NC_000004.12:g.39500665_39500671del, NC_000004.12:g.39500666_39500671del, NC_000004.12:g.39500667_39500671del, NC_000004.12:g.39500668_39500671del, NC_000004.12:g.39500669_39500671del, NC_000004.12:g.39500670_39500671del, NC_000004.12:g.39500671del, NC_000004.12:g.39500671dup, NC_000004.12:g.39500670_39500671dup, NC_000004.12:g.39500669_39500671dup, NC_000004.12:g.39500668_39500671dup, NC_000004.12:g.39500667_39500671dup, NC_000004.12:g.39500666_39500671dup, NC_000004.12:g.39500665_39500671dup, NC_000004.12:g.39500664_39500671dup, NC_000004.12:g.39500663_39500671dup, NC_000004.12:g.39500662_39500671dup, NC_000004.12:g.39500661_39500671dup, NC_000004.12:g.39500660_39500671dup, NC_000004.12:g.39500659_39500671dup, NC_000004.12:g.39500658_39500671dup, NC_000004.12:g.39500657_39500671dup, NC_000004.12:g.39500656_39500671dup, NC_000004.12:g.39500655_39500671dup, NC_000004.12:g.39500654_39500671dup, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502284_39502291del, NC_000004.11:g.39502285_39502291del, NC_000004.11:g.39502286_39502291del, NC_000004.11:g.39502287_39502291del, NC_000004.11:g.39502288_39502291del, NC_000004.11:g.39502289_39502291del, NC_000004.11:g.39502290_39502291del, NC_000004.11:g.39502291del, NC_000004.11:g.39502291dup, NC_000004.11:g.39502290_39502291dup, NC_000004.11:g.39502289_39502291dup, NC_000004.11:g.39502288_39502291dup, NC_000004.11:g.39502287_39502291dup, NC_000004.11:g.39502286_39502291dup, NC_000004.11:g.39502285_39502291dup, NC_000004.11:g.39502284_39502291dup, NC_000004.11:g.39502283_39502291dup, NC_000004.11:g.39502282_39502291dup, NC_000004.11:g.39502281_39502291dup, NC_000004.11:g.39502280_39502291dup, NC_000004.11:g.39502279_39502291dup, NC_000004.11:g.39502278_39502291dup, NC_000004.11:g.39502277_39502291dup, NC_000004.11:g.39502276_39502291dup, NC_000004.11:g.39502275_39502291dup, NC_000004.11:g.39502274_39502291dup, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491202996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 4:39522765
(GRCh38)
4:39524386
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39522765:T:TGT
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.00001/1
(GnomAD)
- HGVS:
7.
rs1491154798 has merged into rs11361166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA,AAAA
[Show Flanks]
- Chromosome:
- 4:39515500
(GRCh38)
4:39517120
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39515499:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:39515499:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:39515499:AAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:39515499:AAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0.0084/59
(
ALFA)
-=0.3955/1436
(1000Genomes)
- HGVS:
8.
rs1491126796 has merged into rs5857683 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:39522778
(GRCh38)
4:39524398
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.29373/1471
(1000Genomes)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000004.12:g.39522778_39522781del, NC_000004.12:g.39522779_39522781del, NC_000004.12:g.39522780_39522781del, NC_000004.12:g.39522781del, NC_000004.12:g.39522781dup, NC_000004.12:g.39522780_39522781dup, NC_000004.12:g.39522779_39522781dup, NC_000004.12:g.39522774_39522781dup, NC_000004.11:g.39524398_39524401del, NC_000004.11:g.39524399_39524401del, NC_000004.11:g.39524400_39524401del, NC_000004.11:g.39524401del, NC_000004.11:g.39524401dup, NC_000004.11:g.39524400_39524401dup, NC_000004.11:g.39524399_39524401dup, NC_000004.11:g.39524394_39524401dup
9.
rs1491032352 has merged into rs11290546 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 4:39505917
(GRCh38)
4:39507537
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.39505917_39505919del, NC_000004.12:g.39505918_39505919del, NC_000004.12:g.39505919del, NC_000004.12:g.39505919dup, NC_000004.12:g.39505918_39505919dup, NC_000004.12:g.39505917_39505919dup, NC_000004.11:g.39507537_39507539del, NC_000004.11:g.39507538_39507539del, NC_000004.11:g.39507539del, NC_000004.11:g.39507539dup, NC_000004.11:g.39507538_39507539dup, NC_000004.11:g.39507537_39507539dup
10.
rs1491028082 has merged into rs200878844 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:39511277
(GRCh38)
4:39512897
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39511265:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:39511265:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:39511265:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:39511265:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:39511265:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:39511265:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:39511265:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.07833/47
(NorthernSweden)
T=0.225/9
(GENOME_DK)
T=0.26777/1341
(1000Genomes)
- HGVS:
NC_000004.12:g.39511277_39511279del, NC_000004.12:g.39511278_39511279del, NC_000004.12:g.39511279del, NC_000004.12:g.39511279dup, NC_000004.12:g.39511278_39511279dup, NC_000004.12:g.39511277_39511279dup, NC_000004.12:g.39511270_39511279dup, NC_000004.11:g.39512897_39512899del, NC_000004.11:g.39512898_39512899del, NC_000004.11:g.39512899del, NC_000004.11:g.39512899dup, NC_000004.11:g.39512898_39512899dup, NC_000004.11:g.39512897_39512899dup, NC_000004.11:g.39512890_39512899dup
11.
rs1490910075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:39510137
(GRCh38)
4:39511757
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39510136:T:C
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490771089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:39513047
(GRCh38)
4:39514667
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39513046:A:T
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
13.
rs1490612501 has merged into rs11284301 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:39500664
(GRCh38)
4:39502284
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:39500653:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.4595/2301
(1000Genomes)
- HGVS:
NC_000004.12:g.39500664_39500671del, NC_000004.12:g.39500665_39500671del, NC_000004.12:g.39500666_39500671del, NC_000004.12:g.39500667_39500671del, NC_000004.12:g.39500668_39500671del, NC_000004.12:g.39500669_39500671del, NC_000004.12:g.39500670_39500671del, NC_000004.12:g.39500671del, NC_000004.12:g.39500671dup, NC_000004.12:g.39500670_39500671dup, NC_000004.12:g.39500669_39500671dup, NC_000004.12:g.39500668_39500671dup, NC_000004.12:g.39500667_39500671dup, NC_000004.12:g.39500666_39500671dup, NC_000004.12:g.39500665_39500671dup, NC_000004.12:g.39500664_39500671dup, NC_000004.12:g.39500663_39500671dup, NC_000004.12:g.39500662_39500671dup, NC_000004.12:g.39500661_39500671dup, NC_000004.12:g.39500660_39500671dup, NC_000004.12:g.39500659_39500671dup, NC_000004.12:g.39500658_39500671dup, NC_000004.12:g.39500657_39500671dup, NC_000004.12:g.39500656_39500671dup, NC_000004.12:g.39500655_39500671dup, NC_000004.12:g.39500654_39500671dup, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.39500671_39500672insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502284_39502291del, NC_000004.11:g.39502285_39502291del, NC_000004.11:g.39502286_39502291del, NC_000004.11:g.39502287_39502291del, NC_000004.11:g.39502288_39502291del, NC_000004.11:g.39502289_39502291del, NC_000004.11:g.39502290_39502291del, NC_000004.11:g.39502291del, NC_000004.11:g.39502291dup, NC_000004.11:g.39502290_39502291dup, NC_000004.11:g.39502289_39502291dup, NC_000004.11:g.39502288_39502291dup, NC_000004.11:g.39502287_39502291dup, NC_000004.11:g.39502286_39502291dup, NC_000004.11:g.39502285_39502291dup, NC_000004.11:g.39502284_39502291dup, NC_000004.11:g.39502283_39502291dup, NC_000004.11:g.39502282_39502291dup, NC_000004.11:g.39502281_39502291dup, NC_000004.11:g.39502280_39502291dup, NC_000004.11:g.39502279_39502291dup, NC_000004.11:g.39502278_39502291dup, NC_000004.11:g.39502277_39502291dup, NC_000004.11:g.39502276_39502291dup, NC_000004.11:g.39502275_39502291dup, NC_000004.11:g.39502274_39502291dup, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.39502291_39502292insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
14.
rs1490529247 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCCGGGCCG>-
[Show Flanks]
- Chromosome:
- 4:39528095
(GRCh38)
4:39529715
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39528094:TCCGGGCCG:
- Gene:
- UGDH (Varview), UGDH-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490523112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:39527053
(GRCh38)
4:39528673
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39527052:G:A,NC_000004.12:39527052:G:C
- Gene:
- UGDH (Varview), UGDH-AS1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD_exomes)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000004.12:g.39527053G>A, NC_000004.12:g.39527053G>C, NC_000004.11:g.39528673G>A, NC_000004.11:g.39528673G>C, XM_005262667.4:c.32C>T, XM_005262667.4:c.32C>G, XM_005262667.3:c.32C>T, XM_005262667.3:c.32C>G, XM_005262667.2:c.32C>T, XM_005262667.2:c.32C>G, XM_005262667.1:c.32C>T, XM_005262667.1:c.32C>G, XP_005262724.1:p.Ser11Phe, XP_005262724.1:p.Ser11Cys
16.
rs1490492899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:39525788
(GRCh38)
4:39527408
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39525787:C:T
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
17.
rs1490379150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:39528012
(GRCh38)
4:39529632
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39528011:C:A
- Gene:
- UGDH (Varview), UGDH-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490328255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:39525063
(GRCh38)
4:39526683
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39525062:T:C
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
19.
rs1490097250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:39508798
(GRCh38)
4:39510418
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39508797:C:A
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490095553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:39521866
(GRCh38)
4:39523486
(GRCh37)
- Canonical SPDI:
- NC_000004.12:39521865:G:A,NC_000004.12:39521865:G:C
- Gene:
- UGDH (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: