Links from Nucleotide
Items: 1 to 20 of 58
1.
rs1490857632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:70453232
(GRCh38)
X:69673082
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453231:T:A
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
2.
rs1488880572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:70455964
(GRCh38)
X:69675814
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70455963:C:T
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/3
(GnomAD)
T=0.001372/4
(KOREAN)
T=0.002295/29
(TOMMO)
- HGVS:
3.
rs1486261059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:70453076
(GRCh38)
X:69672926
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453075:C:A
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1434353922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:70455950
(GRCh38)
X:69675800
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70455949:T:G
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000048/5
(GnomAD)
- HGVS:
6.
rs1403564797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:70453065
(GRCh38)
X:69672915
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453064:C:T
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
7.
rs1402628354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:70453291
(GRCh38)
X:69673141
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453290:G:A
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
8.
rs1386942197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:70453066
(GRCh38)
X:69672916
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453065:G:A
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1371104308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:70453173
(GRCh38)
X:69673023
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453172:G:A
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
10.
rs1367433296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:70453137
(GRCh38)
X:69672987
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453136:G:A,NC_000023.11:70453136:G:T
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
A=0.000045/1
(TOMMO)
- HGVS:
11.
rs1362232296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:70453095
(GRCh38)
X:69672945
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453094:A:G
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1362171902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:70453121
(GRCh38)
X:69672971
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453120:G:T
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1346809534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:70453292
(GRCh38)
X:69673142
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453291:G:C
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
14.
rs1293069217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:70453111
(GRCh38)
X:69672961
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453110:T:C
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
16.
rs1291507934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:70455969
(GRCh38)
X:69675819
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70455968:C:G
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1286743918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:70453012
(GRCh38)
X:69672862
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453011:A:C
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1270322182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:70453245
(GRCh38)
X:69673095
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453244:C:T
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000039/4
(GnomAD)
- HGVS:
19.
rs1253480520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:70453275
(GRCh38)
X:69673125
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70453274:G:A
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1244168719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:70455978
(GRCh38)
X:69675828
(GRCh37)
- Canonical SPDI:
- NC_000023.11:70455977:C:A
- Gene:
- DLG3 (Varview), DLG3-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS: