Links from Nucleotide
Items: 1 to 20 of 62
1.
rs1473128017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:135123522
(GRCh38)
X:134257450
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123521:C:G
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
2.
rs1471225128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- X:135123434
(GRCh38)
X:134257362
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123433:C:A,NC_000023.11:135123433:C:T
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
C=0./0
(SGDP_PRJ)
T=0.00087/11
(TOMMO)
T=0.00352/10
(KOREAN)
- HGVS:
3.
rs1463409431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:135123540
(GRCh38)
X:134257468
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123539:G:A
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.00006/5
(GnomAD_exomes)
- HGVS:
4.
rs1463367411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:135123446
(GRCh38)
X:134257374
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123445:G:A
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000108/2
(
ALFA)
A=0.000011/1
(GnomAD)
A=0.000015/4
(TOPMED)
A=0.000021/2
(GnomAD_exomes)
- HGVS:
5.
rs1455913104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:135123399
(GRCh38)
X:134257327
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123398:G:A
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000087/2
(
ALFA)
A=0.000062/6
(GnomAD)
A=0.000083/22
(TOPMED)
A=0.000113/11
(GnomAD_exomes)
A=0.000697/2
(KOREAN)
- HGVS:
6.
rs1439625367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:135123304
(GRCh38)
X:134257232
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123303:A:G
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
8.
rs1412199002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:135123512
(GRCh38)
X:134257440
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123511:C:T
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/2
(GnomAD)
- HGVS:
10.
rs1409967622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:135123355
(GRCh38)
X:134257283
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123354:A:T
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
11.
rs1388328809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:135123503
(GRCh38)
X:134257431
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123502:G:A
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD_exomes)
A=0.00003/8
(TOPMED)
A=0.000043/4
(GnomAD)
- HGVS:
12.
rs1387380904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:135123532
(GRCh38)
X:134257460
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123531:C:T
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/1
(GnomAD)
T=0.000011/1
(GnomAD_exomes)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1344083992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:135123321
(GRCh38)
X:134257249
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123320:A:G
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000031/3
(GnomAD_exomes)
G=0.000038/10
(TOPMED)
- HGVS:
14.
rs1340706323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:135123486
(GRCh38)
X:134257414
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123485:T:C
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
15.
rs1331837364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:135123380
(GRCh38)
X:134257308
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123379:C:T
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD_exomes)
- HGVS:
18.
rs1276840675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:135123308
(GRCh38)
X:134257236
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123307:T:C
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00002/2
(GnomAD)
- HGVS:
19.
rs1263563382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:135123330
(GRCh38)
X:134257258
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123329:G:A
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.00001/1
(GnomAD_exomes)
- HGVS:
20.
rs1251657927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:135123258
(GRCh38)
X:134257186
(GRCh37)
- Canonical SPDI:
- NC_000023.11:135123257:T:C
- Gene:
- SMIM10L2B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000178/4
(
ALFA)
C=0.00003/3
(GnomAD)
C=0.00003/8
(TOPMED)
C=0.000042/2
(GnomAD_exomes)
- HGVS: