Links from Gene
Items: 1 to 20 of 20075
1.
rs1491588985 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:100218365
(GRCh38)
7:99815988
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100218363:TAT:T
- Gene:
- STAG3 (Varview), PVRIG (Varview), CASTOR3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491568797 has merged into rs1039734294 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:100232413
(GRCh38)
7:99830036
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100232404:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AAAA=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.100232413_100232429del, NC_000007.14:g.100232416_100232429del, NC_000007.14:g.100232417_100232429del, NC_000007.14:g.100232418_100232429del, NC_000007.14:g.100232419_100232429del, NC_000007.14:g.100232420_100232429del, NC_000007.14:g.100232421_100232429del, NC_000007.14:g.100232422_100232429del, NC_000007.14:g.100232423_100232429del, NC_000007.14:g.100232424_100232429del, NC_000007.14:g.100232425_100232429del, NC_000007.14:g.100232426_100232429del, NC_000007.14:g.100232427_100232429del, NC_000007.14:g.100232428_100232429del, NC_000007.14:g.100232429del, NC_000007.14:g.100232429dup, NC_000007.14:g.100232428_100232429dup, NC_000007.14:g.100232427_100232429dup, NC_000007.14:g.100232426_100232429dup, NC_000007.14:g.100232425_100232429dup, NC_000007.14:g.100232424_100232429dup, NC_000007.14:g.100232423_100232429dup, NC_000007.14:g.100232422_100232429dup, NC_000007.14:g.100232421_100232429dup, NC_000007.13:g.99830036_99830052del, NC_000007.13:g.99830039_99830052del, NC_000007.13:g.99830040_99830052del, NC_000007.13:g.99830041_99830052del, NC_000007.13:g.99830042_99830052del, NC_000007.13:g.99830043_99830052del, NC_000007.13:g.99830044_99830052del, NC_000007.13:g.99830045_99830052del, NC_000007.13:g.99830046_99830052del, NC_000007.13:g.99830047_99830052del, NC_000007.13:g.99830048_99830052del, NC_000007.13:g.99830049_99830052del, NC_000007.13:g.99830050_99830052del, NC_000007.13:g.99830051_99830052del, NC_000007.13:g.99830052del, NC_000007.13:g.99830052dup, NC_000007.13:g.99830051_99830052dup, NC_000007.13:g.99830050_99830052dup, NC_000007.13:g.99830049_99830052dup, NC_000007.13:g.99830048_99830052dup, NC_000007.13:g.99830047_99830052dup, NC_000007.13:g.99830046_99830052dup, NC_000007.13:g.99830045_99830052dup, NC_000007.13:g.99830044_99830052dup
3.
rs1491566849 has merged into rs869293102 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:100255337
(GRCh38)
7:99852960
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100255324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:100255324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:100255324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:100255324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:100255324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:100255324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:100255324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:100255324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.100255337_100255341del, NC_000007.14:g.100255338_100255341del, NC_000007.14:g.100255339_100255341del, NC_000007.14:g.100255340_100255341del, NC_000007.14:g.100255341del, NC_000007.14:g.100255341dup, NC_000007.14:g.100255340_100255341dup, NC_000007.14:g.100255338_100255341dup, NC_000007.13:g.99852960_99852964del, NC_000007.13:g.99852961_99852964del, NC_000007.13:g.99852962_99852964del, NC_000007.13:g.99852963_99852964del, NC_000007.13:g.99852964del, NC_000007.13:g.99852964dup, NC_000007.13:g.99852963_99852964dup, NC_000007.13:g.99852961_99852964dup
4.
rs1491180866 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:100218364
(GRCh38)
7:99815988
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100218364::G
- Gene:
- STAG3 (Varview), PVRIG (Varview), CASTOR3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
5.
rs1491171672 has merged into rs67520848 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:100251534
(GRCh38)
7:99849157
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100251526:AAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:100251526:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:100251526:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:100251526:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:100251526:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:100251526:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:100251526:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.213/821
(ALSPAC)
-=0.4245/2126
(1000Genomes)
- HGVS:
NC_000007.14:g.100251534_100251540del, NC_000007.14:g.100251537_100251540del, NC_000007.14:g.100251538_100251540del, NC_000007.14:g.100251539_100251540del, NC_000007.14:g.100251540del, NC_000007.14:g.100251540dup, NC_000007.14:g.100251539_100251540dup, NC_000007.13:g.99849157_99849163del, NC_000007.13:g.99849160_99849163del, NC_000007.13:g.99849161_99849163del, NC_000007.13:g.99849162_99849163del, NC_000007.13:g.99849163del, NC_000007.13:g.99849163dup, NC_000007.13:g.99849162_99849163dup
6.
rs1491147411 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 7:100255324
(GRCh38)
7:99852947
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100255323:CT:
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491073571 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:100216366
(GRCh38)
7:99813989
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100216365:AT:
- Gene:
- STAG3 (Varview), CASTOR3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
- HGVS:
9.
rs1491068556 has merged into rs71517105 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 7:100199140
(GRCh38)
7:99796763
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100199128:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:100199128:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:100199128:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- STAG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.275/11
(GENOME_DK)
- HGVS:
10.
rs1491032644 has merged into rs541947002 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:100231787
(GRCh38)
7:99829410
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100231773:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00968/48
(1000Genomes)
- HGVS:
NC_000007.14:g.100231787_100231798del, NC_000007.14:g.100231788_100231798del, NC_000007.14:g.100231789_100231798del, NC_000007.14:g.100231790_100231798del, NC_000007.14:g.100231791_100231798del, NC_000007.14:g.100231792_100231798del, NC_000007.14:g.100231794_100231798del, NC_000007.14:g.100231796_100231798del, NC_000007.14:g.100231797_100231798del, NC_000007.14:g.100231798del, NC_000007.14:g.100231798dup, NC_000007.14:g.100231797_100231798dup, NC_000007.14:g.100231796_100231798dup, NC_000007.14:g.100231795_100231798dup, NC_000007.14:g.100231794_100231798dup, NC_000007.14:g.100231786_100231798dup, NC_000007.13:g.99829410_99829421del, NC_000007.13:g.99829411_99829421del, NC_000007.13:g.99829412_99829421del, NC_000007.13:g.99829413_99829421del, NC_000007.13:g.99829414_99829421del, NC_000007.13:g.99829415_99829421del, NC_000007.13:g.99829417_99829421del, NC_000007.13:g.99829419_99829421del, NC_000007.13:g.99829420_99829421del, NC_000007.13:g.99829421del, NC_000007.13:g.99829421dup, NC_000007.13:g.99829420_99829421dup, NC_000007.13:g.99829419_99829421dup, NC_000007.13:g.99829418_99829421dup, NC_000007.13:g.99829417_99829421dup, NC_000007.13:g.99829409_99829421dup
11.
rs1491021585 has merged into rs11383220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:100199910
(GRCh38)
7:99797533
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:100199899:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- STAG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.386/1933
(1000Genomes)
- HGVS:
NC_000007.14:g.100199910_100199916del, NC_000007.14:g.100199911_100199916del, NC_000007.14:g.100199912_100199916del, NC_000007.14:g.100199913_100199916del, NC_000007.14:g.100199914_100199916del, NC_000007.14:g.100199915_100199916del, NC_000007.14:g.100199916del, NC_000007.14:g.100199916dup, NC_000007.14:g.100199915_100199916dup, NC_000007.14:g.100199914_100199916dup, NC_000007.14:g.100199913_100199916dup, NC_000007.13:g.99797533_99797539del, NC_000007.13:g.99797534_99797539del, NC_000007.13:g.99797535_99797539del, NC_000007.13:g.99797536_99797539del, NC_000007.13:g.99797537_99797539del, NC_000007.13:g.99797538_99797539del, NC_000007.13:g.99797539del, NC_000007.13:g.99797539dup, NC_000007.13:g.99797538_99797539dup, NC_000007.13:g.99797537_99797539dup, NC_000007.13:g.99797536_99797539dup, NG_034114.1:g.27187_27193del, NG_034114.1:g.27188_27193del, NG_034114.1:g.27189_27193del, NG_034114.1:g.27190_27193del, NG_034114.1:g.27191_27193del, NG_034114.1:g.27192_27193del, NG_034114.1:g.27193del, NG_034114.1:g.27193dup, NG_034114.1:g.27192_27193dup, NG_034114.1:g.27191_27193dup, NG_034114.1:g.27190_27193dup
12.
rs1491003906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100211801
(GRCh38)
7:99809424
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100211800:C:T
- Gene:
- STAG3 (Varview), CASTOR3 (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.100211801C>T, NC_000007.13:g.99809424C>T, NG_034114.1:g.39078C>T, NM_012447.4:c.3522C>T, NM_012447.3:c.3522C>T, NM_012447.2:c.3522C>T, NM_001282717.2:c.3525C>T, NM_001282717.1:c.3525C>T, NM_001282718.2:c.3348C>T, NM_001282718.1:c.3348C>T, NM_001282716.1:c.3522C>T, NM_001375438.1:c.3525C>T, XM_017011686.3:c.3522C>T, XM_017011686.2:c.3522C>T, XM_017011686.1:c.3522C>T, XM_017011683.3:c.3525C>T, XM_017011683.2:c.3525C>T, XM_017011683.1:c.3525C>T, XM_017011685.2:c.3525C>T, XM_017011685.1:c.3525C>T, XM_017011684.2:c.3525C>T, XM_017011684.1:c.3525C>T, NR_028038.2:n.1167G>A, NR_028038.1:n.1194G>A, XM_017011687.2:c.3348C>T, XM_017011687.1:c.3348C>T, XM_047419788.1:c.3525C>T, XM_047419789.1:c.3525C>T, XM_047419791.1:c.3522C>T, XM_047419787.1:c.3525C>T, XM_047419790.1:c.3522C>T, XM_047419786.1:c.3525C>T, XM_047419796.1:c.3348C>T, XM_047419795.1:c.3348C>T, XM_047419794.1:c.3351C>T, XM_047419792.1:c.3351C>T, XM_047419793.1:c.3351C>T, XM_047419797.1:c.3243C>T, NR_028039.1:n.1194G>A, XM_047419798.1:c.2532C>T
13.
rs1490968024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:100219957
(GRCh38)
7:99817580
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100219956:G:A
- Gene:
- PVRIG (Varview), CASTOR3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490967351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:100199453
(GRCh38)
7:99797076
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100199452:C:A,NC_000007.14:100199452:C:T
- Gene:
- STAG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490924268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:100232785
(GRCh38)
7:99830408
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100232784:G:A
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000038/10
(TOPMED)
A=0.000043/6
(GnomAD)
A=0.000342/1
(KOREAN)
A=0.001092/2
(Korea1K)
- HGVS:
16.
rs1490840054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:100268204
(GRCh38)
7:99865827
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100268203:G:A
- Gene:
- CASTOR3 (Varview), LOC105375426 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
17.
rs1490800477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:100193037
(GRCh38)
7:99790660
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100193036:T:C
- Gene:
- STAG3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490766480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100257964
(GRCh38)
7:99855587
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100257963:C:T
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490755184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:100235022
(GRCh38)
7:99832645
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100235021:C:A,NC_000007.14:100235021:C:T
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490753613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 7:100272875
(GRCh38)
7:99870498
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100272873:TGT:T
- Gene:
- CASTOR3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS: