Links from Gene
Items: 1 to 20 of 3980
1.
rs1491510824 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 5:67185287
(GRCh38)
5:66481116
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67185287:TA:TATA
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
TA=0.000004/1
(TOPMED)
TA=0.000025/1
(GnomAD)
- HGVS:
2.
rs1491233420 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 5:67185329
(GRCh38)
5:66481157
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67185327:CGC:C
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.023773/282
(
ALFA)
-=0.008333/5
(NorthernSweden)
-=0.025/1
(GENOME_DK)
-=0.025947/100
(ALSPAC)
-=0.032093/119
(TWINSUK)
-=0.034086/4483
(GnomAD)
-=0.166302/304
(Korea1K)
-=0.178093/2981
(TOMMO)
- HGVS:
3.
rs1490562740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:67186677
(GRCh38)
5:66482505
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67186676:A:C
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000094/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490540887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:67193655
(GRCh38)
5:66489483
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67193654:T:C
- Gene:
- CD180 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
5.
rs1489933475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:67186838
(GRCh38)
5:66482666
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67186837:T:C
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000016/2
(GnomAD)
- HGVS:
7.
rs1489228627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 5:67190822
(GRCh38)
5:66486650
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67190821:CCC:CC
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
8.
rs1489094398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:67186964
(GRCh38)
5:66482792
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67186963:C:A,NC_000005.10:67186963:C:T
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489040411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:67190295
(GRCh38)
5:66486123
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67190294:C:G
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488993161 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 5:67191867
(GRCh38)
5:66487695
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67191866:AAAAA:AAAA
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488923541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:67195805
(GRCh38)
5:66491633
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67195804:C:A
- Gene:
- CD180 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488848323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:67191970
(GRCh38)
5:66487798
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67191969:C:G
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1488838318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:67188068
(GRCh38)
5:66483896
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67188067:G:T
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488751895 has merged into rs1324771100 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTT>-,CTTTTCTTTT
[Show Flanks]
- Chromosome:
- 5:67182321
(GRCh38)
5:66478149
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67182310:CTTTTCTTTTCTTTT:CTTTTCTTTT,NC_000005.10:67182310:CTTTTCTTTTCTTTT:CTTTTCTTTTCTTTTCTTTT
- Gene:
- CD180 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTTTCTTTTCTTTTCTTTT=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
-=0.000318/5
(TOMMO)
- HGVS:
NC_000005.10:g.67182311CTTTT[2], NC_000005.10:g.67182311CTTTT[4], NC_000005.9:g.66478139CTTTT[2], NC_000005.9:g.66478139CTTTT[4], XM_005248504.5:c.*532AAAAG[2], XM_005248504.5:c.*532AAAAG[4], XM_005248504.4:c.*532AAAAG[2], XM_005248504.4:c.*532AAAAG[4], XM_005248504.3:c.*532AAAAG[2], XM_005248504.3:c.*532AAAAG[4], XM_005248504.2:c.*532AAAAG[2], XM_005248504.2:c.*532AAAAG[4], XM_005248504.1:c.*532AAAAG[2], XM_005248504.1:c.*532AAAAG[4], NM_005582.3:c.*532AAAAG[2], NM_005582.3:c.*532AAAAG[4], NM_005582.2:c.*532AAAAG[2], NM_005582.2:c.*532AAAAG[4], XM_047417178.1:c.*532AAAAG[2], XM_047417178.1:c.*532AAAAG[4]
15.
rs1488740293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:67184552
(GRCh38)
5:66480380
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67184551:A:G
- Gene:
- CD180 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1488372822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:67187069
(GRCh38)
5:66482897
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67187068:T:C
- Gene:
- CD180 (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)
C=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1488341221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:67195103
(GRCh38)
5:66490931
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67195102:C:T
- Gene:
- CD180 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487832334 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTCTATACAAATTAC>-
[Show Flanks]
- Chromosome:
- 5:67188332
(GRCh38)
5:66484160
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67188324:AAATTACTTTTCTATACAAATTAC:AAATTAC
- Gene:
- CD180 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAATTAC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1487674209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:67197066
(GRCh38)
5:66492894
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67197065:A:G
- Gene:
- CD180 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
20.
rs1487558723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:67195710
(GRCh38)
5:66491538
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67195709:T:C
- Gene:
- CD180 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000042/11
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS: