Links from Gene
Items: 1 to 20 of 4119
1.
rs1491480749 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 4:3253153
(GRCh38)
4:3254880
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3253152:AG:
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
2.
rs1491433633 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:3253153
(GRCh38)
4:3254881
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3253153:GGGG:GGGGG
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1491014504 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 4:3251687
(GRCh38)
4:3253414
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3251685:TCT:T
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
4.
rs1490920112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:3245242
(GRCh38)
4:3246969
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3245241:C:T
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490887698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:3243670
(GRCh38)
4:3245397
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3243669:C:T
- Gene:
- HTT (Varview), MSANTD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490851522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:3245781
(GRCh38)
4:3247508
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3245780:G:A
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
7.
rs1490783075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:3244307
(GRCh38)
4:3246034
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3244306:T:C
- Gene:
- HTT (Varview), MSANTD1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490447244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:3252183
(GRCh38)
4:3253910
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3252182:G:A
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490359317 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 4:3250548
(GRCh38)
4:3252275
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3250547:GGGG:GGG
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490284136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:3252764
(GRCh38)
4:3254491
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3252763:T:C
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489915758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:3246817
(GRCh38)
4:3248544
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3246816:G:A
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489872648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:3247454
(GRCh38)
4:3249181
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3247453:C:T
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1489574108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:3246090
(GRCh38)
4:3247817
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3246089:C:T
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1489193237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:3252058
(GRCh38)
4:3253785
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3252057:C:T
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489094829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:3254067
(GRCh38)
4:3255794
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3254066:A:G
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489020396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:3244746
(GRCh38)
4:3246473
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3244745:A:T
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
17.
rs1488867798 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 4:3252606
(GRCh38)
4:3254333
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3252605:A:
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488647929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:3253330
(GRCh38)
4:3255057
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3253329:G:A
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000111/1
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
A=0.000142/2
(TOMMO)
- HGVS:
19.
rs1488590082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:3246710
(GRCh38)
4:3248437
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3246709:C:T
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000017/2
(GnomAD_exomes)
- HGVS:
20.
rs1488240677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:3250002
(GRCh38)
4:3251729
(GRCh37)
- Canonical SPDI:
- NC_000004.12:3250001:G:A
- Gene:
- MSANTD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.000271/38
(GnomAD)
- HGVS: