Links from Gene
Items: 1 to 20 of 1000
1.
rs1491575333 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- X:66036715
(GRCh38)
X:65256558
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66036715:T:TTT
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TT=0.00002/1
(GnomAD)
- HGVS:
2.
rs1491513706 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- X:66038467
(GRCh38)
X:65258309
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66038466:GC:
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491490235 has merged into rs1378627939 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- X:66036679
(GRCh38)
X:65256521
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66036671:ATATATATA:ATATATA,NC_000023.11:66036671:ATATATATA:ATATATATATA
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
-=0.000102/27
(TOPMED)
-=0.000832/4
(1000Genomes)
-=0.011082/142
(TOMMO)
- HGVS:
4.
rs1491484893 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- X:66036671
(GRCh38)
X:65256513
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66036670:AA:
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.0006/35
(GnomAD)
- HGVS:
5.
rs1491436743 has merged into rs747112398 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTC>-,TC,TCTC,TCTCTCTC,TCTCTCTCTC
[Show Flanks]
- Chromosome:
- X:66038477
(GRCh38)
X:65258319
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66038467:CTCTCTCTCTCTCTC:CTCTCTCTC,NC_000023.11:66038467:CTCTCTCTCTCTCTC:CTCTCTCTCTC,NC_000023.11:66038467:CTCTCTCTCTCTCTC:CTCTCTCTCTCTC,NC_000023.11:66038467:CTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTC,NC_000023.11:66038467:CTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTC
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.66038469TC[4], NC_000023.11:g.66038469TC[5], NC_000023.11:g.66038469TC[6], NC_000023.11:g.66038469TC[8], NC_000023.11:g.66038469TC[9], NC_000023.10:g.65258311TC[4], NC_000023.10:g.65258311TC[5], NC_000023.10:g.65258311TC[6], NC_000023.10:g.65258311TC[8], NC_000023.10:g.65258311TC[9], NG_021306.1:g.6645AG[4], NG_021306.1:g.6645AG[5], NG_021306.1:g.6645AG[6], NG_021306.1:g.6645AG[8], NG_021306.1:g.6645AG[9]
6.
rs1491436028 has merged into rs1217768220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- X:66036721
(GRCh38)
X:65256563
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66036714:ATATATATAT:ATATAT,NC_000023.11:66036714:ATATATATAT:ATATATAT,NC_000023.11:66036714:ATATATATAT:ATATATATATAT
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000186/2
(TOMMO)
- HGVS:
8.
rs1491276158 has merged into rs1338274451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- X:66036830
(GRCh38)
X:65256672
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66036821:TATATATATA:TATATATA,NC_000023.11:66036821:TATATATATA:TATATATATATA
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATA=0.00007/1
(
ALFA)
-=0.00006/1
(TOMMO)
- HGVS:
9.
rs1491229936 has merged into rs1211655954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGGG
[Show Flanks]
- Chromosome:
- X:66034770
(GRCh38)
X:65254612
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66034766:GGGGG:GGG,NC_000023.11:66034766:GGGGG:GGGG,NC_000023.11:66034766:GGGGG:GGGGGG,NC_000023.11:66034766:GGGGG:GGGGGGG,NC_000023.11:66034766:GGGGG:GGGGGGGGG
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
G=0.0069/82
(TOMMO)
- HGVS:
NC_000023.11:g.66034770_66034771del, NC_000023.11:g.66034771del, NC_000023.11:g.66034771dup, NC_000023.11:g.66034770_66034771dup, NC_000023.11:g.66034768_66034771dup, NC_000023.10:g.65254612_65254613del, NC_000023.10:g.65254613del, NC_000023.10:g.65254613dup, NC_000023.10:g.65254612_65254613dup, NC_000023.10:g.65254610_65254613dup, NG_021306.1:g.10358_10359del, NG_021306.1:g.10359del, NG_021306.1:g.10359dup, NG_021306.1:g.10358_10359dup, NG_021306.1:g.10356_10359dup
10.
rs1491227779 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- X:66036714
(GRCh38)
X:65256556
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66036713:AA:
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00004/2
(GnomAD)
- HGVS:
12.
rs1491226488 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- X:66037534
(GRCh38)
X:65257377
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66037534:A:AA
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000093/1
(GnomAD)
- HGVS:
13.
rs1491213176 has merged into rs1217768220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- X:66036721
(GRCh38)
X:65256563
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66036714:ATATATATAT:ATATAT,NC_000023.11:66036714:ATATATATAT:ATATATAT,NC_000023.11:66036714:ATATATATAT:ATATATATATAT
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000186/2
(TOMMO)
- HGVS:
15.
rs1490945977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:66034180
(GRCh38)
X:65254022
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66034179:C:T
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000058/6
(GnomAD)
- HGVS:
16.
rs1490577911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- X:66022123
(GRCh38)
X:65241965
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66022122:A:G,NC_000023.11:66022122:A:T
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000015/2
(GnomAD_exomes)
- HGVS:
NC_000023.11:g.66022123A>G, NC_000023.11:g.66022123A>T, NC_000023.10:g.65241965A>G, NC_000023.10:g.65241965A>T, NG_021306.1:g.23003T>C, NG_021306.1:g.23003T>A, NM_007268.3:c.*140T>C, NM_007268.3:c.*140T>A, NM_007268.2:c.*140T>C, NM_007268.2:c.*140T>A, NM_001184830.2:c.*714T>C, NM_001184830.2:c.*714T>A, NM_001184830.1:c.*714T>C, NM_001184830.1:c.*714T>A, NM_001184831.2:c.*714T>C, NM_001184831.2:c.*714T>A, NM_001184831.1:c.*714T>C, NM_001184831.1:c.*714T>A, NM_001100431.2:c.*140T>C, NM_001100431.2:c.*140T>A, NM_001100431.1:c.*140T>C, NM_001100431.1:c.*140T>A, NM_001257403.2:c.1006T>C, NM_001257403.2:c.1006T>A, NM_001257403.1:c.1006T>C, NM_001257403.1:c.1006T>A, NP_001244332.1:p.Trp336Arg, NP_001244332.1:p.Trp336Arg
17.
rs1490442596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:66029876
(GRCh38)
X:65249718
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66029875:G:A
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490322804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:66022715
(GRCh38)
X:65242557
(GRCh37)
- Canonical SPDI:
- NC_000023.11:66022714:G:A
- Gene:
- VSIG4 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS: