Links from Nucleotide
Items: 1 to 20 of 1371
1.
rs1490924545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:50355223
(GRCh38)
15:50647420
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50355222:C:T
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000223/1
(Estonian)
- HGVS:
NC_000015.10:g.50355223C>T, NC_000015.9:g.50647420C>T, NG_029475.2:g.5186G>A, NM_005254.5:c.-239G>A, NM_016654.4:c.-239G>A, NM_002041.4:c.-239G>A, NM_016655.4:c.-239G>A, NM_181427.3:c.-263G>A, NR_024490.1:n.1050C>T, NM_001320910.1:c.-263G>A, NM_001320915.1:c.-263G>A
2.
rs1490639646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:50355758
(GRCh38)
15:50647955
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50355757:C:T
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490150142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:50356057
(GRCh38)
15:50648254
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50356056:G:A
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490063235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:50356977
(GRCh38)
15:50649174
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50356976:G:C
- Gene:
- GABPB1 (Varview), GABPB1-AS1 (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=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489038061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:50355388
(GRCh38)
15:50647585
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50355387:C:T
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
NC_000015.10:g.50355388C>T, NC_000015.9:g.50647585C>T, NG_029475.2:g.5021G>A, NM_005254.5:c.-404G>A, NM_016654.4:c.-404G>A, NM_002041.4:c.-404G>A, NM_016655.4:c.-404G>A, NM_181427.3:c.-428G>A, NR_024490.1:n.1215C>T, NM_001320910.1:c.-428G>A, NM_001320915.1:c.-428G>A
6.
rs1488264577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:50355442
(GRCh38)
15:50647639
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50355441:C:T
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487262484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:50355342
(GRCh38)
15:50647539
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50355341:G:A
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000015.10:g.50355342G>A, NC_000015.9:g.50647539G>A, NG_029475.2:g.5067C>T, NM_005254.5:c.-358C>T, NM_016654.4:c.-358C>T, NM_002041.4:c.-358C>T, NM_016655.4:c.-358C>T, NM_181427.3:c.-382C>T, NR_024490.1:n.1169G>A, NM_001320910.1:c.-382C>T, NM_001320915.1:c.-382C>T
8.
rs1487134082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 15:50354560
(GRCh38)
15:50646757
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50354559:T:A,NC_000015.10:50354559:T:G
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
NC_000015.10:g.50354560T>A, NC_000015.10:g.50354560T>G, NC_000015.9:g.50646757T>A, NC_000015.9:g.50646757T>G, NG_029475.2:g.5849A>T, NG_029475.2:g.5849A>C, NR_026891.1:n.320A>T, NR_026891.1:n.320A>C, NR_024490.1:n.387T>A, NR_024490.1:n.387T>G, NM_017976.1:c.137A>T, NM_017976.1:c.137A>C
9.
rs1486853266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:50354452
(GRCh38)
15:50646649
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50354451:G:A
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000008/1
(GnomAD_exomes)
- HGVS:
10.
rs1486507114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 15:50358283
(GRCh38)
15:50650480
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50358282:C:A,NC_000015.10:50358282:C:G,NC_000015.10:50358282:C:T
- Gene:
- GABPB1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00167/1
(NorthernSweden)
- HGVS:
NC_000015.10:g.50358283C>A, NC_000015.10:g.50358283C>G, NC_000015.10:g.50358283C>T, NC_000015.9:g.50650480C>A, NC_000015.9:g.50650480C>G, NC_000015.9:g.50650480C>T, NG_029475.2:g.2126G>T, NG_029475.2:g.2126G>C, NG_029475.2:g.2126G>A, NR_024490.1:n.4110C>A, NR_024490.1:n.4110C>G, NR_024490.1:n.4110C>T
11.
rs1486402817 has merged into rs914381906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:50358313
(GRCh38)
15:50650510
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:50358304:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GABPB1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AAA=0.000004/1
(TOPMED)
- HGVS:
NC_000015.10:g.50358313_50358326del, NC_000015.10:g.50358314_50358326del, NC_000015.10:g.50358315_50358326del, NC_000015.10:g.50358316_50358326del, NC_000015.10:g.50358317_50358326del, NC_000015.10:g.50358318_50358326del, NC_000015.10:g.50358319_50358326del, NC_000015.10:g.50358322_50358326del, NC_000015.10:g.50358323_50358326del, NC_000015.10:g.50358324_50358326del, NC_000015.10:g.50358325_50358326del, NC_000015.10:g.50358326del, NC_000015.10:g.50358326dup, NC_000015.10:g.50358325_50358326dup, NC_000015.10:g.50358324_50358326dup, NC_000015.10:g.50358323_50358326dup, NC_000015.10:g.50358322_50358326dup, NC_000015.10:g.50358321_50358326dup, NC_000015.10:g.50358320_50358326dup, NC_000015.10:g.50358319_50358326dup, NC_000015.10:g.50358309_50358326dup, NC_000015.9:g.50650510_50650523del, NC_000015.9:g.50650511_50650523del, NC_000015.9:g.50650512_50650523del, NC_000015.9:g.50650513_50650523del, NC_000015.9:g.50650514_50650523del, NC_000015.9:g.50650515_50650523del, NC_000015.9:g.50650516_50650523del, NC_000015.9:g.50650519_50650523del, NC_000015.9:g.50650520_50650523del, NC_000015.9:g.50650521_50650523del, NC_000015.9:g.50650522_50650523del, NC_000015.9:g.50650523del, NC_000015.9:g.50650523dup, NC_000015.9:g.50650522_50650523dup, NC_000015.9:g.50650521_50650523dup, NC_000015.9:g.50650520_50650523dup, NC_000015.9:g.50650519_50650523dup, NC_000015.9:g.50650518_50650523dup, NC_000015.9:g.50650517_50650523dup, NC_000015.9:g.50650516_50650523dup, NC_000015.9:g.50650506_50650523dup, NG_029475.2:g.2091_2104del, NG_029475.2:g.2092_2104del, NG_029475.2:g.2093_2104del, NG_029475.2:g.2094_2104del, NG_029475.2:g.2095_2104del, NG_029475.2:g.2096_2104del, NG_029475.2:g.2097_2104del, NG_029475.2:g.2100_2104del, NG_029475.2:g.2101_2104del, NG_029475.2:g.2102_2104del, NG_029475.2:g.2103_2104del, NG_029475.2:g.2104del, NG_029475.2:g.2104dup, NG_029475.2:g.2103_2104dup, NG_029475.2:g.2102_2104dup, NG_029475.2:g.2101_2104dup, NG_029475.2:g.2100_2104dup, NG_029475.2:g.2099_2104dup, NG_029475.2:g.2098_2104dup, NG_029475.2:g.2097_2104dup, NG_029475.2:g.2087_2104dup
12.
rs1485517772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:50358261
(GRCh38)
15:50650458
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50358260:T:C
- Gene:
- GABPB1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000054/7
(GnomAD)
C=0.000248/4
(TOMMO)
- HGVS:
13.
rs1484095768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:50356779
(GRCh38)
15:50648976
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50356778:G:A
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1483542949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:50354748
(GRCh38)
15:50646945
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50354747:C:G
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1483312072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:50356873
(GRCh38)
15:50649070
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50356872:G:A
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1482711368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:50354960
(GRCh38)
15:50647157
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50354959:G:A,NC_000015.10:50354959:G:C
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000142/2
(TOMMO)
A=0.000223/1
(Estonian)
- HGVS:
17.
rs1481853597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:50355754
(GRCh38)
15:50647951
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50355753:G:A
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
18.
rs1481638889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 15:50355123
(GRCh38)
15:50647320
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50355122:A:C,NC_000015.10:50355122:A:G
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
NC_000015.10:g.50355123A>C, NC_000015.10:g.50355123A>G, NC_000015.9:g.50647320A>C, NC_000015.9:g.50647320A>G, NG_029475.2:g.5286T>G, NG_029475.2:g.5286T>C, NM_005254.6:c.-139T>G, NM_005254.6:c.-139T>C, NM_005254.5:c.-139T>G, NM_005254.5:c.-139T>C, NM_016654.5:c.-139T>G, NM_016654.5:c.-139T>C, NM_016654.4:c.-139T>G, NM_016654.4:c.-139T>C, NM_002041.5:c.-139T>G, NM_002041.5:c.-139T>C, NM_002041.4:c.-139T>G, NM_002041.4:c.-139T>C, NM_016655.5:c.-139T>G, NM_016655.5:c.-139T>C, NM_016655.4:c.-139T>G, NM_016655.4:c.-139T>C, NM_181427.4:c.-163T>G, NM_181427.4:c.-163T>C, NM_181427.3:c.-163T>G, NM_181427.3:c.-163T>C, NM_001320910.2:c.-163T>G, NM_001320910.2:c.-163T>C, NM_001320910.1:c.-163T>G, NM_001320910.1:c.-163T>C, NM_001320915.2:c.-163T>G, NM_001320915.2:c.-163T>C, NM_001320915.1:c.-163T>G, NM_001320915.1:c.-163T>C, XM_011521426.4:c.-139T>G, XM_011521426.4:c.-139T>C, XM_011521426.3:c.-139T>G, XM_011521426.3:c.-139T>C, XM_011521426.2:c.-139T>G, XM_011521426.2:c.-139T>C, XM_017022053.3:c.-163T>G, XM_017022053.3:c.-163T>C, XM_017022053.2:c.-163T>G, XM_017022053.2:c.-163T>C, XM_017022053.1:c.-163T>G, XM_017022053.1:c.-163T>C, XM_024449883.2:c.-182T>G, XM_024449883.2:c.-182T>C, XM_024449883.1:c.-182T>G, XM_024449883.1:c.-182T>C, XM_024449886.2:c.-139T>G, XM_024449886.2:c.-139T>C, XM_024449886.1:c.-139T>G, XM_024449886.1:c.-139T>C, NR_024490.1:n.950A>C, NR_024490.1:n.950A>G
20.
rs1481066263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:50355833
(GRCh38)
15:50648030
(GRCh37)
- Canonical SPDI:
- NC_000015.10:50355832:C:T
- Gene:
- GABPB1 (Varview), GABPB1-IT1 (Varview), GABPB1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: