Links from Nucleotide
Items: 1 to 20 of 2416
1.
rs1491337123 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- X:13044320
(GRCh38)
X:13062439
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13044319:GA:
- Gene:
- FAM9C (Varview), LOC105373133 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00368/41
(TOMMO)
- HGVS:
2.
rs1491018769 has merged into rs936158241 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- X:13034444
(GRCh38)
X:13052563
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13034436:ATATATATA:ATATATA,NC_000023.11:13034436:ATATATATA:ATATATATATA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
-=0.00005/1
(TOMMO)
- HGVS:
3.
rs1490821702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:13034793
(GRCh38)
X:13052912
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13034792:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.000038/4
(GnomAD)
- HGVS:
4.
rs1490816726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:13039165
(GRCh38)
X:13057284
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13039164:T:C
- Gene:
- FAM9C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.00001/1
(GnomAD)
- HGVS:
6.
rs1490512830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:13042642
(GRCh38)
X:13060761
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13042641:C:T
- Gene:
- FAM9C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490359370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:13041219
(GRCh38)
X:13059338
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13041218:G:C
- Gene:
- FAM9C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489957729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:13049313
(GRCh38)
X:13067432
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13049312:A:C
- Gene:
- LOC105373133 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
9.
rs1489728669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- X:13049066
(GRCh38)
X:13067185
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13049065:T:A,NC_000023.11:13049065:T:C
- Gene:
- LOC105373133 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
10.
rs1489218078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:13045813
(GRCh38)
X:13063932
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13045812:G:A
- Gene:
- FAM9C (Varview), LOC105373133 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.00001/1
(GnomAD)
- HGVS:
11.
rs1489032538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:13044671
(GRCh38)
X:13062790
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13044670:G:A
- Gene:
- FAM9C (Varview), LOC105373133 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1488704484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:13044916
(GRCh38)
X:13063035
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13044915:C:T
- Gene:
- FAM9C (Varview), LOC105373133 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488654492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:13044043
(GRCh38)
X:13062162
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13044042:C:T
- Gene:
- FAM9C (Varview), LOC105373133 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1488565128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:13035460
(GRCh38)
X:13053579
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13035459:A:G
- Gene:
- FAM9C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
16.
rs1488564498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:13037733
(GRCh38)
X:13055852
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13037732:G:A
- Gene:
- FAM9C (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
17.
rs1488236543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:13037460
(GRCh38)
X:13055579
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13037459:T:C
- Gene:
- FAM9C (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000132/2
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
18.
rs1488169933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:13034344
(GRCh38)
X:13052463
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13034343:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
19.
rs1487816370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:13047587
(GRCh38)
X:13065706
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13047586:A:G
- Gene:
- LOC105373133 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000019/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
20.
rs1487650032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:13042623
(GRCh38)
X:13060742
(GRCh37)
- Canonical SPDI:
- NC_000023.11:13042622:G:A
- Gene:
- FAM9C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS: