Links from Gene
Items: 1 to 20 of 1000
1.
rs1491562789 has merged into rs59960841 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:14828829
(GRCh38)
3:14870336
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14828820:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.14828829_14828839del, NC_000003.12:g.14828832_14828839del, NC_000003.12:g.14828833_14828839del, NC_000003.12:g.14828835_14828839del, NC_000003.12:g.14828836_14828839del, NC_000003.12:g.14828837_14828839del, NC_000003.12:g.14828838_14828839del, NC_000003.12:g.14828839del, NC_000003.12:g.14828839dup, NC_000003.12:g.14828838_14828839dup, NC_000003.12:g.14828837_14828839dup, NC_000003.12:g.14828836_14828839dup, NC_000003.12:g.14828835_14828839dup, NC_000003.12:g.14828834_14828839dup, NC_000003.11:g.14870336_14870346del, NC_000003.11:g.14870339_14870346del, NC_000003.11:g.14870340_14870346del, NC_000003.11:g.14870342_14870346del, NC_000003.11:g.14870343_14870346del, NC_000003.11:g.14870344_14870346del, NC_000003.11:g.14870345_14870346del, NC_000003.11:g.14870346del, NC_000003.11:g.14870346dup, NC_000003.11:g.14870345_14870346dup, NC_000003.11:g.14870344_14870346dup, NC_000003.11:g.14870343_14870346dup, NC_000003.11:g.14870342_14870346dup, NC_000003.11:g.14870341_14870346dup
2.
rs1491524574 has merged into rs10714568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:14925113
(GRCh38)
3:14966620
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14925100:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FGD5 (Varview), LOC105376963 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.14925113_14925128del, NC_000003.12:g.14925114_14925128del, NC_000003.12:g.14925116_14925128del, NC_000003.12:g.14925117_14925128del, NC_000003.12:g.14925118_14925128del, NC_000003.12:g.14925119_14925128del, NC_000003.12:g.14925120_14925128del, NC_000003.12:g.14925121_14925128del, NC_000003.12:g.14925122_14925128del, NC_000003.12:g.14925123_14925128del, NC_000003.12:g.14925124_14925128del, NC_000003.12:g.14925125_14925128del, NC_000003.12:g.14925126_14925128del, NC_000003.12:g.14925127_14925128del, NC_000003.12:g.14925128del, NC_000003.12:g.14925128dup, NC_000003.12:g.14925127_14925128dup, NC_000003.12:g.14925126_14925128dup, NC_000003.12:g.14925125_14925128dup, NC_000003.12:g.14925124_14925128dup, NC_000003.12:g.14925123_14925128dup, NC_000003.11:g.14966620_14966635del, NC_000003.11:g.14966621_14966635del, NC_000003.11:g.14966623_14966635del, NC_000003.11:g.14966624_14966635del, NC_000003.11:g.14966625_14966635del, NC_000003.11:g.14966626_14966635del, NC_000003.11:g.14966627_14966635del, NC_000003.11:g.14966628_14966635del, NC_000003.11:g.14966629_14966635del, NC_000003.11:g.14966630_14966635del, NC_000003.11:g.14966631_14966635del, NC_000003.11:g.14966632_14966635del, NC_000003.11:g.14966633_14966635del, NC_000003.11:g.14966634_14966635del, NC_000003.11:g.14966635del, NC_000003.11:g.14966635dup, NC_000003.11:g.14966634_14966635dup, NC_000003.11:g.14966633_14966635dup, NC_000003.11:g.14966632_14966635dup, NC_000003.11:g.14966631_14966635dup, NC_000003.11:g.14966630_14966635dup
3.
rs1491513872 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:14925100
(GRCh38)
3:14966607
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14925099:CA:
- Gene:
- FGD5 (Varview), LOC105376963 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00076/9
(
ALFA)
-=0.00059/9
(TOMMO)
- HGVS:
4.
rs1491489290 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 3:14843703
(GRCh38)
3:14885210
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14843702:TG:
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.004131/49
(
ALFA)
-=0.004534/597
(GnomAD)
- HGVS:
5.
rs1491474065 has merged into rs869097450 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,G,GG,GGG,GGGGG
[Show Flanks]
- Chromosome:
- 3:14843706
(GRCh38)
3:14885213
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14843703:GGGGGG:GG,NC_000003.12:14843703:GGGGGG:GGG,NC_000003.12:14843703:GGGGGG:GGGG,NC_000003.12:14843703:GGGGGG:GGGGG,NC_000003.12:14843703:GGGGGG:GGGGGGG
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
7.
rs1491405248 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:14825961
(GRCh38)
3:14867468
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14825957:ACACA:ACA
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491375565 has merged into rs201883392 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:14909770
(GRCh38)
3:14951277
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14909761:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.14909770_14909777del, NC_000003.12:g.14909773_14909777del, NC_000003.12:g.14909774_14909777del, NC_000003.12:g.14909775_14909777del, NC_000003.12:g.14909776_14909777del, NC_000003.12:g.14909777del, NC_000003.12:g.14909777dup, NC_000003.12:g.14909776_14909777dup, NC_000003.12:g.14909775_14909777dup, NC_000003.12:g.14909774_14909777dup, NC_000003.12:g.14909773_14909777dup, NC_000003.12:g.14909772_14909777dup, NC_000003.12:g.14909770_14909777dup, NC_000003.12:g.14909769_14909777dup, NC_000003.12:g.14909768_14909777dup, NC_000003.12:g.14909767_14909777dup, NC_000003.12:g.14909762_14909777dup, NC_000003.11:g.14951277_14951284del, NC_000003.11:g.14951280_14951284del, NC_000003.11:g.14951281_14951284del, NC_000003.11:g.14951282_14951284del, NC_000003.11:g.14951283_14951284del, NC_000003.11:g.14951284del, NC_000003.11:g.14951284dup, NC_000003.11:g.14951283_14951284dup, NC_000003.11:g.14951282_14951284dup, NC_000003.11:g.14951281_14951284dup, NC_000003.11:g.14951280_14951284dup, NC_000003.11:g.14951279_14951284dup, NC_000003.11:g.14951277_14951284dup, NC_000003.11:g.14951276_14951284dup, NC_000003.11:g.14951275_14951284dup, NC_000003.11:g.14951274_14951284dup, NC_000003.11:g.14951269_14951284dup
9.
rs1491294355 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AA,AAA
[Show Flanks]
- Chromosome:
- 3:14888167
(GRCh38)
3:14929675
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14888167::AA,NC_000003.12:14888167::AAA
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
AA=0.00503/2
(NorthernSweden)
- HGVS:
10.
rs1491216013 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 3:14827306
(GRCh38)
3:14868813
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14827305:TG:
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000689/94
(GnomAD)
- HGVS:
11.
rs1491211265 has merged into rs140724200 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:14882709
(GRCh38)
3:14924216
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14882697:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:14882697:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:14882697:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:14882697:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:14882697:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:14882697:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:14882697:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.03741/22
(NorthernSweden)
-=0.29413/1473
(1000Genomes)
- HGVS:
NC_000003.12:g.14882709_14882714del, NC_000003.12:g.14882710_14882714del, NC_000003.12:g.14882713_14882714del, NC_000003.12:g.14882714del, NC_000003.12:g.14882714dup, NC_000003.12:g.14882713_14882714dup, NC_000003.12:g.14882712_14882714dup, NC_000003.11:g.14924216_14924221del, NC_000003.11:g.14924217_14924221del, NC_000003.11:g.14924220_14924221del, NC_000003.11:g.14924221del, NC_000003.11:g.14924221dup, NC_000003.11:g.14924220_14924221dup, NC_000003.11:g.14924219_14924221dup
12.
rs1491108011 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTT
[Show Flanks]
- Chromosome:
- 3:14909762
(GRCh38)
3:14951270
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14909762:TTT:TTTCTTT
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTCTTT=0.00017/2
(
ALFA)
TTTC=0.00014/2
(TOMMO)
- HGVS:
13.
rs1491067204 has merged into rs59408384 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT
[Show Flanks]
- Chromosome:
- 3:14825475
(GRCh38)
3:14866982
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14825462:ATATATATATATATAT:ATATATATATAT,NC_000003.12:14825462:ATATATATATATATAT:ATATATATATATAT,NC_000003.12:14825462:ATATATATATATATAT:ATATATATATATATATAT,NC_000003.12:14825462:ATATATATATATATAT:ATATATATATATATATATAT,NC_000003.12:14825462:ATATATATATATATAT:ATATATATATATATATATATAT
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATAT=0./0
(
ALFA)
AT=0.01/6
(NorthernSweden)
AT=0.01193/200
(TOMMO)
-=0.01777/89
(1000Genomes)
- HGVS:
14.
rs1491051689 has merged into rs11290454 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 3:14822503
(GRCh38)
3:14864010
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14822489:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:14822489:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:14822489:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:14822489:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:14822489:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:14822489:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.11333/68
(NorthernSweden)
- HGVS:
NC_000003.12:g.14822503_14822504del, NC_000003.12:g.14822504del, NC_000003.12:g.14822504dup, NC_000003.12:g.14822503_14822504dup, NC_000003.12:g.14822502_14822504dup, NC_000003.12:g.14822500_14822504dup, NC_000003.11:g.14864010_14864011del, NC_000003.11:g.14864011del, NC_000003.11:g.14864011dup, NC_000003.11:g.14864010_14864011dup, NC_000003.11:g.14864009_14864011dup, NC_000003.11:g.14864007_14864011dup
15.
rs1491042859 has merged into rs138741627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:14893761
(GRCh38)
3:14935268
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14893752:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.14893761_14893772del, NC_000003.12:g.14893762_14893772del, NC_000003.12:g.14893763_14893772del, NC_000003.12:g.14893764_14893772del, NC_000003.12:g.14893765_14893772del, NC_000003.12:g.14893766_14893772del, NC_000003.12:g.14893767_14893772del, NC_000003.12:g.14893768_14893772del, NC_000003.12:g.14893769_14893772del, NC_000003.12:g.14893770_14893772del, NC_000003.12:g.14893771_14893772del, NC_000003.12:g.14893772del, NC_000003.12:g.14893772dup, NC_000003.12:g.14893771_14893772dup, NC_000003.12:g.14893753_14893772T[22]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.14893770_14893772dup, NC_000003.12:g.14893769_14893772dup, NC_000003.12:g.14893768_14893772dup, NC_000003.12:g.14893767_14893772dup, NC_000003.12:g.14893753_14893772T[26]CTTTTTT[2]T[15], NC_000003.12:g.14893753_14893772T[26]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.14893753_14893772T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.14893766_14893772dup, NC_000003.12:g.14893753_14893772T[27]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.14893765_14893772dup, NC_000003.12:g.14893764_14893772dup, NC_000003.12:g.14893763_14893772dup, NC_000003.12:g.14893762_14893772dup, NC_000003.12:g.14893761_14893772dup, NC_000003.12:g.14893760_14893772dup, NC_000003.12:g.14893759_14893772dup, NC_000003.12:g.14893758_14893772dup, NC_000003.12:g.14893757_14893772dup, NC_000003.12:g.14893756_14893772dup, NC_000003.12:g.14893755_14893772dup, NC_000003.12:g.14893754_14893772dup, NC_000003.12:g.14893753_14893772dup, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.14893772_14893773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935268_14935279del, NC_000003.11:g.14935269_14935279del, NC_000003.11:g.14935270_14935279del, NC_000003.11:g.14935271_14935279del, NC_000003.11:g.14935272_14935279del, NC_000003.11:g.14935273_14935279del, NC_000003.11:g.14935274_14935279del, NC_000003.11:g.14935275_14935279del, NC_000003.11:g.14935276_14935279del, NC_000003.11:g.14935277_14935279del, NC_000003.11:g.14935278_14935279del, NC_000003.11:g.14935279del, NC_000003.11:g.14935279dup, NC_000003.11:g.14935278_14935279dup, NC_000003.11:g.14935260_14935279T[22]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.14935277_14935279dup, NC_000003.11:g.14935276_14935279dup, NC_000003.11:g.14935275_14935279dup, NC_000003.11:g.14935274_14935279dup, NC_000003.11:g.14935260_14935279T[26]CTTTTTT[2]T[15], NC_000003.11:g.14935260_14935279T[26]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.14935260_14935279T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.14935273_14935279dup, NC_000003.11:g.14935260_14935279T[27]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.14935272_14935279dup, NC_000003.11:g.14935271_14935279dup, NC_000003.11:g.14935270_14935279dup, NC_000003.11:g.14935269_14935279dup, NC_000003.11:g.14935268_14935279dup, NC_000003.11:g.14935267_14935279dup, NC_000003.11:g.14935266_14935279dup, NC_000003.11:g.14935265_14935279dup, NC_000003.11:g.14935264_14935279dup, NC_000003.11:g.14935263_14935279dup, NC_000003.11:g.14935262_14935279dup, NC_000003.11:g.14935261_14935279dup, NC_000003.11:g.14935260_14935279dup, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.14935279_14935280insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
16.
rs1491033127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:14827281
(GRCh38)
3:14868788
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14827279:TCT:T
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000225/25
(GnomAD)
- HGVS:
17.
rs1491032710 has merged into rs71919787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:14843700
(GRCh38)
3:14885207
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:14843686:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.1/4
(GENOME_DK)
- HGVS:
NC_000003.12:g.14843700_14843703del, NC_000003.12:g.14843701_14843703del, NC_000003.12:g.14843702_14843703del, NC_000003.12:g.14843703del, NC_000003.12:g.14843703dup, NC_000003.12:g.14843702_14843703dup, NC_000003.12:g.14843701_14843703dup, NC_000003.12:g.14843700_14843703dup, NC_000003.12:g.14843699_14843703dup, NC_000003.11:g.14885207_14885210del, NC_000003.11:g.14885208_14885210del, NC_000003.11:g.14885209_14885210del, NC_000003.11:g.14885210del, NC_000003.11:g.14885210dup, NC_000003.11:g.14885209_14885210dup, NC_000003.11:g.14885208_14885210dup, NC_000003.11:g.14885207_14885210dup, NC_000003.11:g.14885206_14885210dup
18.
rs1491024730 has merged into rs60893439 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 3:14851935
(GRCh38)
3:14893442
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14851924:AAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:14851924:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:14851924:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:14851924:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:14851924:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4764/2386
(1000Genomes)
- HGVS:
19.
rs1491010182 has merged into rs60432520 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 3:14927945
(GRCh38)
3:14969452
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14927931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:14927931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:14927931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:14927931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:14927931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0.00009/1
(
ALFA)
- HGVS:
20.
rs1490972162 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAC>-
[Show Flanks]
- Chromosome:
- 3:14826788
(GRCh38)
3:14868295
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14826785:ACAAC:AC
- Gene:
- FGD5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS: