Links from Gene
Items: 1 to 20 of 1000
2.
rs1491544197 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:86059899
(GRCh38)
9:88674814
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86059898:CA:
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00506/60
(
ALFA)
-=0.00025/15
(GnomAD)
-=0.00326/92
(TOMMO)
- HGVS:
3.
rs1491540472 has merged into rs35694231 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 9:86094175
(GRCh38)
9:88709090
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86094164:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:86094164:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:86094164:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:86094164:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:86094164:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0887/342
(ALSPAC)
TT=0.4438/1327
(1000Genomes)
- HGVS:
4.
rs1491502517 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 9:86043845
(GRCh38)
9:88658760
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86043844:TG:
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
5.
rs1491485546 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:86053556
(GRCh38)
9:88668471
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86053555:TA:
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.01003/86
(TOMMO)
-=0.06478/39
(GnomAD)
-=0.10714/24
(Korea1K)
- HGVS:
6.
rs1491478068 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 9:86096177
(GRCh38)
9:88711092
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86096176:GT:
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000675/11
(
ALFA)
-=0.000673/71
(GnomAD)
- HGVS:
7.
rs1491427424 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 9:86053547
(GRCh38)
9:88668462
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86053545:AAA:A
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.0002/1
(TOMMO)
- HGVS:
8.
rs1491414792 has merged into rs71505776 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:86088577
(GRCh38)
9:88703492
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86088572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.86088577_86088588del, NC_000009.12:g.86088580_86088588del, NC_000009.12:g.86088583_86088588del, NC_000009.12:g.86088584_86088588del, NC_000009.12:g.86088585_86088588del, NC_000009.12:g.86088586_86088588del, NC_000009.12:g.86088587_86088588del, NC_000009.12:g.86088588del, NC_000009.12:g.86088588dup, NC_000009.12:g.86088587_86088588dup, NC_000009.12:g.86088586_86088588dup, NC_000009.12:g.86088584_86088588dup, NC_000009.12:g.86088582_86088588dup, NC_000009.12:g.86088575_86088588dup, NC_000009.12:g.86088588_86088589insTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.86088588_86088589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.88703492_88703503del, NC_000009.11:g.88703495_88703503del, NC_000009.11:g.88703498_88703503del, NC_000009.11:g.88703499_88703503del, NC_000009.11:g.88703500_88703503del, NC_000009.11:g.88703501_88703503del, NC_000009.11:g.88703502_88703503del, NC_000009.11:g.88703503del, NC_000009.11:g.88703503dup, NC_000009.11:g.88703502_88703503dup, NC_000009.11:g.88703501_88703503dup, NC_000009.11:g.88703499_88703503dup, NC_000009.11:g.88703497_88703503dup, NC_000009.11:g.88703490_88703503dup, NC_000009.11:g.88703503_88703504insTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.88703503_88703504insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491401611 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 9:86085470
(GRCh38)
9:88700385
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86085469:TG:
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000169/2
(
ALFA)
-=0.00013/18
(GnomAD)
- HGVS:
11.
rs1491394721 has merged into rs11475801 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 9:86096188
(GRCh38)
9:88711103
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86096177:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:86096177:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:86096177:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:86096177:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:86096177:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:86096177:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:86096177:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.426621/250
(NorthernSweden)
-=0.432907/2168
(1000Genomes)
T=0.5/20
(GENOME_DK)
- HGVS:
NC_000009.12:g.86096188_86096193del, NC_000009.12:g.86096189_86096193del, NC_000009.12:g.86096190_86096193del, NC_000009.12:g.86096191_86096193del, NC_000009.12:g.86096192_86096193del, NC_000009.12:g.86096193del, NC_000009.12:g.86096193dup, NC_000009.11:g.88711103_88711108del, NC_000009.11:g.88711104_88711108del, NC_000009.11:g.88711105_88711108del, NC_000009.11:g.88711106_88711108del, NC_000009.11:g.88711107_88711108del, NC_000009.11:g.88711108del, NC_000009.11:g.88711108dup
12.
rs1491373240 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:86095075
(GRCh38)
9:88709991
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86095075::C
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00012/2
(GnomAD)
- HGVS:
13.
rs1491365139 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:86095425
(GRCh38)
9:88710340
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86095424:TA:
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.014839/242
(
ALFA)
-=0.001451/24
(TOMMO)
-=0.011706/7
(NorthernSweden)
-=0.017958/115
(1000Genomes)
-=0.020743/2581
(GnomAD)
-=0.05/2
(GENOME_DK)
- HGVS:
14.
rs1491357691 has merged into rs35215928 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:86030227
(GRCh38)
9:88645142
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86030218:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000009.12:g.86030227_86030242del, NC_000009.12:g.86030228_86030242del, NC_000009.12:g.86030229_86030242del, NC_000009.12:g.86030231_86030242del, NC_000009.12:g.86030232_86030242del, NC_000009.12:g.86030234_86030242del, NC_000009.12:g.86030235_86030242del, NC_000009.12:g.86030236_86030242del, NC_000009.12:g.86030237_86030242del, NC_000009.12:g.86030238_86030242del, NC_000009.12:g.86030239_86030242del, NC_000009.12:g.86030240_86030242del, NC_000009.12:g.86030241_86030242del, NC_000009.12:g.86030242del, NC_000009.12:g.86030242dup, NC_000009.12:g.86030241_86030242dup, NC_000009.12:g.86030240_86030242dup, NC_000009.12:g.86030239_86030242dup, NC_000009.12:g.86030238_86030242dup, NC_000009.12:g.86030237_86030242dup, NC_000009.12:g.86030236_86030242dup, NC_000009.12:g.86030235_86030242dup, NC_000009.12:g.86030234_86030242dup, NC_000009.12:g.86030233_86030242dup, NC_000009.12:g.86030232_86030242dup, NC_000009.12:g.86030231_86030242dup, NC_000009.12:g.86030230_86030242dup, NC_000009.12:g.86030228_86030242dup, NC_000009.12:g.86030226_86030242dup, NC_000009.12:g.86030242_86030243insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.86030242_86030243insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.86030242_86030243insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.88645142_88645157del, NC_000009.11:g.88645143_88645157del, NC_000009.11:g.88645144_88645157del, NC_000009.11:g.88645146_88645157del, NC_000009.11:g.88645147_88645157del, NC_000009.11:g.88645149_88645157del, NC_000009.11:g.88645150_88645157del, NC_000009.11:g.88645151_88645157del, NC_000009.11:g.88645152_88645157del, NC_000009.11:g.88645153_88645157del, NC_000009.11:g.88645154_88645157del, NC_000009.11:g.88645155_88645157del, NC_000009.11:g.88645156_88645157del, NC_000009.11:g.88645157del, NC_000009.11:g.88645157dup, NC_000009.11:g.88645156_88645157dup, NC_000009.11:g.88645155_88645157dup, NC_000009.11:g.88645154_88645157dup, NC_000009.11:g.88645153_88645157dup, NC_000009.11:g.88645152_88645157dup, NC_000009.11:g.88645151_88645157dup, NC_000009.11:g.88645150_88645157dup, NC_000009.11:g.88645149_88645157dup, NC_000009.11:g.88645148_88645157dup, NC_000009.11:g.88645147_88645157dup, NC_000009.11:g.88645146_88645157dup, NC_000009.11:g.88645145_88645157dup, NC_000009.11:g.88645143_88645157dup, NC_000009.11:g.88645141_88645157dup, NC_000009.11:g.88645157_88645158insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.88645157_88645158insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.88645157_88645158insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
15.
rs1491328583 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 9:86094164
(GRCh38)
9:88709079
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86094163:GT:
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000061/4
(GnomAD)
- HGVS:
16.
rs1491318447 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:86085470
(GRCh38)
9:88700386
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86085470:G:GG
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1491298127 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 9:86031474
(GRCh38)
9:88646389
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86031473:TC:
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1491254494 has merged into rs11397922 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTGAGGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTATGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATAATTTTTGCCCTAATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:86085462
(GRCh38)
9:88700377
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGAGGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTATGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATAATTTTTGCCCTAATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86085453:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.86085462_86085470del, NC_000009.12:g.86085464_86085470del, NC_000009.12:g.86085466_86085470del, NC_000009.12:g.86085467_86085470del, NC_000009.12:g.86085468_86085470del, NC_000009.12:g.86085469_86085470del, NC_000009.12:g.86085470del, NC_000009.12:g.86085470dup, NC_000009.12:g.86085469_86085470dup, NC_000009.12:g.86085454_86085470T[19]GAGGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.86085468_86085470dup, NC_000009.12:g.86085454_86085470T[20]ATGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.86085454_86085470T[20]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.86085467_86085470dup, NC_000009.12:g.86085454_86085470T[21]AGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.86085466_86085470dup, NC_000009.12:g.86085454_86085470T[22]GTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.86085454_86085470T[22]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.86085465_86085470dup, NC_000009.12:g.86085454_86085470T[23]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.86085464_86085470dup, NC_000009.12:g.86085463_86085470dup, NC_000009.12:g.86085460_86085470dup, NC_000009.12:g.86085454_86085470T[52]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATAATTTTTGCCCTAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.86085470_86085471insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.86085470_86085471insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.88700377_88700385del, NC_000009.11:g.88700379_88700385del, NC_000009.11:g.88700381_88700385del, NC_000009.11:g.88700382_88700385del, NC_000009.11:g.88700383_88700385del, NC_000009.11:g.88700384_88700385del, NC_000009.11:g.88700385del, NC_000009.11:g.88700385dup, NC_000009.11:g.88700384_88700385dup, NC_000009.11:g.88700369_88700385T[19]GAGGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.88700383_88700385dup, NC_000009.11:g.88700369_88700385T[20]ATGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.88700369_88700385T[20]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.88700382_88700385dup, NC_000009.11:g.88700369_88700385T[21]AGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.88700381_88700385dup, NC_000009.11:g.88700369_88700385T[22]GTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.88700369_88700385T[22]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.88700380_88700385dup, NC_000009.11:g.88700369_88700385T[23]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.88700379_88700385dup, NC_000009.11:g.88700378_88700385dup, NC_000009.11:g.88700375_88700385dup, NC_000009.11:g.88700369_88700385T[52]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATAATTTTTGCCCTAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.88700385_88700386insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.88700385_88700386insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1491241093 has merged into rs35392923 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:86097081
(GRCh38)
9:88711996
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86097067:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4706/2357
(1000Genomes)
- HGVS:
NC_000009.12:g.86097081_86097083del, NC_000009.12:g.86097082_86097083del, NC_000009.12:g.86097083del, NC_000009.12:g.86097083dup, NC_000009.12:g.86097082_86097083dup, NC_000009.12:g.86097081_86097083dup, NC_000009.12:g.86097079_86097083dup, NC_000009.12:g.86097077_86097083dup, NC_000009.12:g.86097071_86097083dup, NC_000009.12:g.86097069_86097083dup, NC_000009.12:g.86097068_86097083dup, NC_000009.11:g.88711996_88711998del, NC_000009.11:g.88711997_88711998del, NC_000009.11:g.88711998del, NC_000009.11:g.88711998dup, NC_000009.11:g.88711997_88711998dup, NC_000009.11:g.88711996_88711998dup, NC_000009.11:g.88711994_88711998dup, NC_000009.11:g.88711992_88711998dup, NC_000009.11:g.88711986_88711998dup, NC_000009.11:g.88711984_88711998dup, NC_000009.11:g.88711983_88711998dup
20.
rs1491219700 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTGC
[Show Flanks]
- Chromosome:
- 9:86088421
(GRCh38)
9:88703337
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86088421::GTGC
- Gene:
- GOLM1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGC=0.00523/62
(
ALFA)
GTGC=0.05941/262
(GnomAD)
- HGVS: