Links from Gene
Items: 1 to 20 of 7512
1.
rs1491576541 has merged into rs11314559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 2:159788116
(GRCh38)
2:160644627
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:159788105:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.159788116_159788118del, NC_000002.12:g.159788117_159788118del, NC_000002.12:g.159788118del, NC_000002.12:g.159788118dup, NC_000002.12:g.159788117_159788118dup, NC_000002.12:g.159788116_159788118dup, NC_000002.11:g.160644627_160644629del, NC_000002.11:g.160644628_160644629del, NC_000002.11:g.160644629del, NC_000002.11:g.160644629dup, NC_000002.11:g.160644628_160644629dup, NC_000002.11:g.160644627_160644629dup
2.
rs1491550704 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:159779230
(GRCh38)
2:160635741
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159779229:CA:
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00438/52
(
ALFA)
-=0.00144/22
(TOMMO)
- HGVS:
3.
rs1491499734 has merged into rs56015039 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 2:159789034
(GRCh38)
2:160645545
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159789022:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:159789022:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:159789022:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.32927/1649
(1000Genomes)
-=0.34333/206
(NorthernSweden)
-=0.36673/366
(GoNL)
-=0.375/15
(GENOME_DK)
- HGVS:
5.
rs1491360294 has merged into rs10656353 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 2:159794315
(GRCh38)
2:160650826
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:159794305:AAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- CD302 (Varview), LY75-CD302 (Varview), LOC124906083 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AA=0.07965/1332
(TOMMO)
-=0.35643/1785
(1000Genomes)
- HGVS:
NC_000002.12:g.159794315_159794316del, NC_000002.12:g.159794316del, NC_000002.12:g.159794316dup, NC_000002.12:g.159794315_159794316dup, NC_000002.12:g.159794314_159794316dup, NC_000002.12:g.159794313_159794316dup, NC_000002.11:g.160650826_160650827del, NC_000002.11:g.160650827del, NC_000002.11:g.160650827dup, NC_000002.11:g.160650826_160650827dup, NC_000002.11:g.160650825_160650827dup, NC_000002.11:g.160650824_160650827dup
6.
rs1491299824 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:159777714
(GRCh38)
2:160634225
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159777713:TA:
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
7.
rs1491244097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:159794305
(GRCh38)
2:160650816
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159794303:ATA:A
- Gene:
- CD302 (Varview), LY75-CD302 (Varview), LOC124906083 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00007/2
(TOMMO)
-=0.00061/1
(Korea1K)
-=0.00089/29
(GnomAD)
- HGVS:
8.
rs1491109324 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:159789022
(GRCh38)
2:160645533
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159789021:AT:
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491097464 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:159782443
(GRCh38)
2:160638954
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159782442:AT:
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
10.
rs1491005070 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 2:159784992
(GRCh38)
2:160641503
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159784991:TG:
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.002276/27
(
ALFA)
-=0.000414/55
(GnomAD)
- HGVS:
11.
rs1490995938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:159791681
(GRCh38)
2:160648192
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159791680:T:A
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
12.
rs1490966409 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:159770118
(GRCh38)
2:160626630
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159770118:A:AA
- Gene:
- CD302 (Varview), MARCHF7 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000028/3
(GnomAD)
- HGVS:
NC_000002.12:g.159770119dup, NC_000002.11:g.160626630dup, NM_014880.5:c.*1732dup, NM_014880.4:c.*1732dup, NM_022826.4:c.*2777dup, NM_001282805.2:c.*2777dup, NM_001282807.2:c.*2777dup, XM_017004721.2:c.*2767dup, NM_001198764.2:c.*1732dup, NM_001198764.1:c.*1732dup, NM_001198763.2:c.*1732dup, NM_001198763.1:c.*1732dup, NM_001198759.1:c.*1732dup, NM_001198760.1:c.*1732dup, XM_047445513.1:c.*2777dup, XM_047445518.1:c.*2767dup, XM_047445508.1:c.*2777dup, XM_047445516.1:c.*2767dup, XM_047445514.1:c.*2777dup, XM_047445521.1:c.*2767dup, XM_047445511.1:c.*2777dup, XM_047445519.1:c.*2767dup, XM_047445517.1:c.*2767dup, XM_047445527.1:c.*2777dup, XM_047445524.1:c.*2777dup, XM_047445520.1:c.*2767dup, XM_047445515.1:c.*2777dup, XM_047445523.1:c.*2767dup, XM_047445529.1:c.*2777dup, XM_047445526.1:c.*2777dup, XM_047445525.1:c.*2777dup, XM_047445530.1:c.*2767dup, XM_047445528.1:c.*2777dup
13.
rs1490913041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:159784113
(GRCh38)
2:160640624
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159784112:G:C
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490805543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:159791230
(GRCh38)
2:160647741
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159791229:T:A
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490794773 has merged into rs3138650 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 2:159792442
(GRCh38)
2:160648953
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:159792422:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.4738/2373
(1000Genomes)
TGTGTGTGTGTGTGTG=0.5/20
(GENOME_DK)
- HGVS:
NC_000002.12:g.159792424GT[9], NC_000002.12:g.159792424GT[10], NC_000002.12:g.159792424GT[11], NC_000002.12:g.159792424GT[12], NC_000002.12:g.159792424GT[13], NC_000002.12:g.159792424GT[14], NC_000002.12:g.159792424GT[15], NC_000002.12:g.159792424GT[16], NC_000002.12:g.159792424GT[17], NC_000002.12:g.159792424GT[18], NC_000002.12:g.159792424GT[19], NC_000002.12:g.159792424GT[20], NC_000002.12:g.159792424GT[21], NC_000002.12:g.159792424GT[23], NC_000002.12:g.159792424GT[24], NC_000002.12:g.159792424GT[25], NC_000002.12:g.159792424GT[26], NC_000002.12:g.159792424GT[27], NC_000002.12:g.159792424GT[28], NC_000002.12:g.159792424GT[29], NC_000002.12:g.159792424GT[30], NC_000002.12:g.159792424GT[31], NC_000002.12:g.159792424GT[32], NC_000002.12:g.159792424GT[33], NC_000002.12:g.159792424GT[35], NC_000002.12:g.159792424GT[36], NC_000002.11:g.160648935GT[9], NC_000002.11:g.160648935GT[10], NC_000002.11:g.160648935GT[11], NC_000002.11:g.160648935GT[12], NC_000002.11:g.160648935GT[13], NC_000002.11:g.160648935GT[14], NC_000002.11:g.160648935GT[15], NC_000002.11:g.160648935GT[16], NC_000002.11:g.160648935GT[17], NC_000002.11:g.160648935GT[18], NC_000002.11:g.160648935GT[19], NC_000002.11:g.160648935GT[20], NC_000002.11:g.160648935GT[21], NC_000002.11:g.160648935GT[23], NC_000002.11:g.160648935GT[24], NC_000002.11:g.160648935GT[25], NC_000002.11:g.160648935GT[26], NC_000002.11:g.160648935GT[27], NC_000002.11:g.160648935GT[28], NC_000002.11:g.160648935GT[29], NC_000002.11:g.160648935GT[30], NC_000002.11:g.160648935GT[31], NC_000002.11:g.160648935GT[32], NC_000002.11:g.160648935GT[33], NC_000002.11:g.160648935GT[35], NC_000002.11:g.160648935GT[36]
16.
rs1490642029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:159791901
(GRCh38)
2:160648412
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159791900:C:T
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
T=0.000053/14
(TOPMED)
- HGVS:
17.
rs1490612101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:159778295
(GRCh38)
2:160634806
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159778294:T:C
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
18.
rs1490599539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:159792899
(GRCh38)
2:160649410
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159792898:C:T
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
19.
rs1490469088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:159774269
(GRCh38)
2:160630780
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159774268:T:C
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
20.
rs1490377230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:159777513
(GRCh38)
2:160634024
(GRCh37)
- Canonical SPDI:
- NC_000002.12:159777512:G:C
- Gene:
- CD302 (Varview), LY75-CD302 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS: