Links from Gene
Items: 1 to 20 of 753
1.
rs1487970327 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 22:38569952
(GRCh38)
22:38965958
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38569952:CCCC:CCCCC
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1487858296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:38569009
(GRCh38)
22:38965014
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38569008:C:A
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1487601939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:38570242
(GRCh38)
22:38966247
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38570241:T:G
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.05404/641
(
ALFA)
G=0.00104/30
(GnomAD)
T=0.5/1
(SGDP_PRJ)
- HGVS:
4.
rs1486170943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:38569134
(GRCh38)
22:38965139
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38569133:A:G
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1485637075 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 22:38570884
(GRCh38)
22:38966890
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38570884::AA
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
AA=0.000004/1
(TOPMED)
- HGVS:
6.
rs1484745358 has merged into rs1443445576 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCC>-,CCC,CCCCC
[Show Flanks]
- Chromosome:
- 22:38571240
(GRCh38)
22:38967245
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38571236:CCCCCCC:CCC,NC_000022.11:38571236:CCCCCCC:CCCCCC,NC_000022.11:38571236:CCCCCCC:CCCCCCCC
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
C=0.00022/1
(Estonian)
C=0.00476/1
(Vietnamese)
- HGVS:
NC_000022.11:g.38571240_38571243del, NC_000022.11:g.38571243del, NC_000022.11:g.38571243dup, NC_000022.10:g.38967245_38967248del, NC_000022.10:g.38967248del, NC_000022.10:g.38967248dup, NG_017203.1:g.3945_3948del, NG_017203.1:g.3948del, NG_017203.1:g.3948dup, NR_134627.1:n.583_586del, NR_134627.1:n.586del, NR_134627.1:n.586dup
7.
rs1484218523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:38570060
(GRCh38)
22:38966065
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38570059:T:C
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
NC_000022.11:g.38570060T>C, NC_000022.10:g.38966065T>C, NG_017203.1:g.5125A>G, NM_007068.4:c.-51A>G, NM_007068.3:c.-51A>G, NM_001363017.2:c.-51A>G, NM_001363017.1:c.-51A>G, NR_103474.2:n.124A>G, NR_103474.1:n.137A>G, XM_017028542.3:c.-51A>G, XM_017028542.2:c.-51A>G, XM_017028542.1:c.-51A>G, XM_011529834.3:c.-51A>G, XM_011529834.2:c.-51A>G, XM_011529834.1:c.-51A>G, XM_011529837.3:c.-51A>G, XM_011529837.2:c.-51A>G, XM_011529837.1:c.-51A>G, XM_011529838.2:c.-51A>G, XM_011529838.1:c.-51A>G, XM_047441076.1:c.-129A>G, XM_047441080.1:c.-129A>G, XM_047441083.1:c.-129A>G, XM_047441075.1:c.-367A>G, XM_047441079.1:c.-129A>G
8.
rs1483578089 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:38570890
(GRCh38)
22:38966895
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38570886:TCTCT:TCT
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
9.
rs1482062095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:38570638
(GRCh38)
22:38966643
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38570637:C:G
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1481949854 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 22:38569956
(GRCh38)
22:38965962
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38569956:AAAAAA:AAAAAAA
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1478895993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:38570109
(GRCh38)
22:38966114
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38570108:C:T
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
NC_000022.11:g.38570109C>T, NC_000022.10:g.38966114C>T, NG_017203.1:g.5076G>A, NM_007068.4:c.-100G>A, NM_007068.3:c.-100G>A, NM_001363017.2:c.-100G>A, NM_001363017.1:c.-100G>A, NR_103474.2:n.75G>A, NR_103474.1:n.88G>A, XM_017028542.3:c.-100G>A, XM_017028542.2:c.-100G>A, XM_017028542.1:c.-100G>A, XM_011529834.3:c.-100G>A, XM_011529834.2:c.-100G>A, XM_011529834.1:c.-100G>A, XM_011529835.3:c.-39G>A, XM_011529835.2:c.-39G>A, XM_011529835.1:c.-39G>A, XM_011529837.3:c.-100G>A, XM_011529837.2:c.-100G>A, XM_011529837.1:c.-100G>A, XM_011529838.2:c.-100G>A, XM_011529838.1:c.-100G>A, XM_047441076.1:c.-178G>A, XM_047441077.1:c.-117G>A, XM_047441078.1:c.-39G>A, XM_047441080.1:c.-178G>A, XM_047441083.1:c.-178G>A, XM_047441081.1:c.-117G>A, XM_047441082.1:c.-39G>A, XM_047441084.1:c.-39G>A, XM_047441075.1:c.-416G>A, XM_047441079.1:c.-178G>A
12.
rs1478515582 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:38569119
(GRCh38)
22:38965124
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38569118:GG:G
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000142/2
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000087/23
(TOPMED)
- HGVS:
13.
rs1478121097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:38571757
(GRCh38)
22:38967762
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38571756:C:A
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1477075983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 22:38570330
(GRCh38)
22:38966336
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38570330:GCG:GCGCG
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCG=0./0
(
ALFA)
GC=0.000026/7
(TOPMED)
GC=0.000029/3
(GnomAD)
- HGVS:
16.
rs1475996286 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 22:38569193
(GRCh38)
22:38965199
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38569193::T
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1475946383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:38569126
(GRCh38)
22:38965131
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38569125:C:G,NC_000022.11:38569125:C:T
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
18.
rs1474751116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:38569393
(GRCh38)
22:38965398
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38569392:A:G
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
19.
rs1474619034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:38568882
(GRCh38)
22:38964887
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38568881:T:C
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000071/2
(TOMMO)
C=0.000546/1
(Korea1K)
- HGVS:
20.
rs1473771983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:38571218
(GRCh38)
22:38967223
(GRCh37)
- Canonical SPDI:
- NC_000022.11:38571217:G:C
- Gene:
- DMC1 (Varview), LOC105373031 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS: