Links from Nucleotide
Items: 1 to 20 of 2295
1.
rs1491504976 has merged into rs1163942144 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- X:57904867
(GRCh38)
X:57931301
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000023.11:g.57904855TA[6], NC_000023.11:g.57904855TA[7], NC_000023.11:g.57904855TA[8], NC_000023.11:g.57904855TA[9], NC_000023.11:g.57904855TA[10], NC_000023.11:g.57904855TA[11], NC_000023.11:g.57904855TA[12], NC_000023.11:g.57904855TA[13], NC_000023.11:g.57904855TA[14], NC_000023.11:g.57904855TA[15], NC_000023.11:g.57904855TA[16], NC_000023.11:g.57904855TA[18], NC_000023.11:g.57904855TA[19], NC_000023.11:g.57904855TA[20], NC_000023.11:g.57904855TA[21], NC_000023.11:g.57904855TA[22], NC_000023.11:g.57904855TA[23], NC_000023.11:g.57904855TA[24], NC_000023.11:g.57904855TA[25], NC_000023.11:g.57904855TA[26], NC_000023.11:g.57904855TA[30], NC_000023.10:g.57931289TA[6], NC_000023.10:g.57931289TA[7], NC_000023.10:g.57931289TA[8], NC_000023.10:g.57931289TA[9], NC_000023.10:g.57931289TA[10], NC_000023.10:g.57931289TA[11], NC_000023.10:g.57931289TA[12], NC_000023.10:g.57931289TA[13], NC_000023.10:g.57931289TA[14], NC_000023.10:g.57931289TA[15], NC_000023.10:g.57931289TA[16], NC_000023.10:g.57931289TA[18], NC_000023.10:g.57931289TA[19], NC_000023.10:g.57931289TA[20], NC_000023.10:g.57931289TA[21], NC_000023.10:g.57931289TA[22], NC_000023.10:g.57931289TA[23], NC_000023.10:g.57931289TA[24], NC_000023.10:g.57931289TA[25], NC_000023.10:g.57931289TA[26], NC_000023.10:g.57931289TA[30], NG_015974.1:g.10746TA[6], NG_015974.1:g.10746TA[7], NG_015974.1:g.10746TA[8], NG_015974.1:g.10746TA[9], NG_015974.1:g.10746TA[10], NG_015974.1:g.10746TA[11], NG_015974.1:g.10746TA[12], NG_015974.1:g.10746TA[13], NG_015974.1:g.10746TA[14], NG_015974.1:g.10746TA[15], NG_015974.1:g.10746TA[16], NG_015974.1:g.10746TA[18], NG_015974.1:g.10746TA[19], NG_015974.1:g.10746TA[20], NG_015974.1:g.10746TA[21], NG_015974.1:g.10746TA[22], NG_015974.1:g.10746TA[23], NG_015974.1:g.10746TA[24], NG_015974.1:g.10746TA[25], NG_015974.1:g.10746TA[26], NG_015974.1:g.10746TA[30]
2.
rs1491228924 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- X:57904854
(GRCh38)
X:57931288
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57904853:CT:
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.0005/11
(TOMMO)
- HGVS:
3.
rs1491168034 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- X:57906657
(GRCh38)
X:57933091
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57906656:TA:
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00012/10
(GnomAD)
- HGVS:
4.
rs1491164686 has merged into rs1163942144 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- X:57904867
(GRCh38)
X:57931301
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:57904854:TATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000023.11:g.57904855TA[6], NC_000023.11:g.57904855TA[7], NC_000023.11:g.57904855TA[8], NC_000023.11:g.57904855TA[9], NC_000023.11:g.57904855TA[10], NC_000023.11:g.57904855TA[11], NC_000023.11:g.57904855TA[12], NC_000023.11:g.57904855TA[13], NC_000023.11:g.57904855TA[14], NC_000023.11:g.57904855TA[15], NC_000023.11:g.57904855TA[16], NC_000023.11:g.57904855TA[18], NC_000023.11:g.57904855TA[19], NC_000023.11:g.57904855TA[20], NC_000023.11:g.57904855TA[21], NC_000023.11:g.57904855TA[22], NC_000023.11:g.57904855TA[23], NC_000023.11:g.57904855TA[24], NC_000023.11:g.57904855TA[25], NC_000023.11:g.57904855TA[26], NC_000023.11:g.57904855TA[30], NC_000023.10:g.57931289TA[6], NC_000023.10:g.57931289TA[7], NC_000023.10:g.57931289TA[8], NC_000023.10:g.57931289TA[9], NC_000023.10:g.57931289TA[10], NC_000023.10:g.57931289TA[11], NC_000023.10:g.57931289TA[12], NC_000023.10:g.57931289TA[13], NC_000023.10:g.57931289TA[14], NC_000023.10:g.57931289TA[15], NC_000023.10:g.57931289TA[16], NC_000023.10:g.57931289TA[18], NC_000023.10:g.57931289TA[19], NC_000023.10:g.57931289TA[20], NC_000023.10:g.57931289TA[21], NC_000023.10:g.57931289TA[22], NC_000023.10:g.57931289TA[23], NC_000023.10:g.57931289TA[24], NC_000023.10:g.57931289TA[25], NC_000023.10:g.57931289TA[26], NC_000023.10:g.57931289TA[30], NG_015974.1:g.10746TA[6], NG_015974.1:g.10746TA[7], NG_015974.1:g.10746TA[8], NG_015974.1:g.10746TA[9], NG_015974.1:g.10746TA[10], NG_015974.1:g.10746TA[11], NG_015974.1:g.10746TA[12], NG_015974.1:g.10746TA[13], NG_015974.1:g.10746TA[14], NG_015974.1:g.10746TA[15], NG_015974.1:g.10746TA[16], NG_015974.1:g.10746TA[18], NG_015974.1:g.10746TA[19], NG_015974.1:g.10746TA[20], NG_015974.1:g.10746TA[21], NG_015974.1:g.10746TA[22], NG_015974.1:g.10746TA[23], NG_015974.1:g.10746TA[24], NG_015974.1:g.10746TA[25], NG_015974.1:g.10746TA[26], NG_015974.1:g.10746TA[30]
5.
rs1491076625 has merged into rs199969464 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- X:57906677
(GRCh38)
X:57933111
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:57906657:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACA=0./0
(
ALFA)
AC=0.15709/593
(1000Genomes)
- HGVS:
NC_000023.11:g.57906659CA[9], NC_000023.11:g.57906659CA[10], NC_000023.11:g.57906659CA[11], NC_000023.11:g.57906659CA[12], NC_000023.11:g.57906659CA[13], NC_000023.11:g.57906659CA[14], NC_000023.11:g.57906659CA[15], NC_000023.11:g.57906659CA[17], NC_000023.11:g.57906659CA[18], NC_000023.11:g.57906659CA[19], NC_000023.11:g.57906659CA[20], NC_000023.11:g.57906659CA[21], NC_000023.11:g.57906659CA[22], NC_000023.10:g.57933093CA[9], NC_000023.10:g.57933093CA[10], NC_000023.10:g.57933093CA[11], NC_000023.10:g.57933093CA[12], NC_000023.10:g.57933093CA[13], NC_000023.10:g.57933093CA[14], NC_000023.10:g.57933093CA[15], NC_000023.10:g.57933093CA[17], NC_000023.10:g.57933093CA[18], NC_000023.10:g.57933093CA[19], NC_000023.10:g.57933093CA[20], NC_000023.10:g.57933093CA[21], NC_000023.10:g.57933093CA[22], NG_015974.1:g.8945GT[9], NG_015974.1:g.8945GT[10], NG_015974.1:g.8945GT[11], NG_015974.1:g.8945GT[12], NG_015974.1:g.8945GT[13], NG_015974.1:g.8945GT[14], NG_015974.1:g.8945GT[15], NG_015974.1:g.8945GT[17], NG_015974.1:g.8945GT[18], NG_015974.1:g.8945GT[19], NG_015974.1:g.8945GT[20], NG_015974.1:g.8945GT[21], NG_015974.1:g.8945GT[22], NM_007156.4:c.*1332GT[9], NM_007156.4:c.*1332GT[10], NM_007156.4:c.*1332GT[11], NM_007156.4:c.*1332GT[12], NM_007156.4:c.*1332GT[13], NM_007156.4:c.*1332GT[14], NM_007156.4:c.*1332GT[15], NM_007156.4:c.*1332GT[17], NM_007156.4:c.*1332GT[18], NM_007156.4:c.*1332GT[19], NM_007156.4:c.*1332GT[20], NM_007156.4:c.*1332GT[21], NM_007156.4:c.*1332GT[22], NM_007156.5:c.*1332GT[9], NM_007156.5:c.*1332GT[10], NM_007156.5:c.*1332GT[11], NM_007156.5:c.*1332GT[12], NM_007156.5:c.*1332GT[13], NM_007156.5:c.*1332GT[14], NM_007156.5:c.*1332GT[15], NM_007156.5:c.*1332GT[17], NM_007156.5:c.*1332GT[18], NM_007156.5:c.*1332GT[19], NM_007156.5:c.*1332GT[20], NM_007156.5:c.*1332GT[21], NM_007156.5:c.*1332GT[22]
6.
rs1490709863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:57907681
(GRCh38)
X:57934115
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57907680:T:C
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00008/1
(TOMMO)
- HGVS:
7.
rs1490544818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- X:57906910
(GRCh38)
X:57933344
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57906909:G:A,NC_000023.11:57906909:G:C
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1490018961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:57915564
(GRCh38)
X:57941998
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57915563:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
9.
rs1489480218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:57910878
(GRCh38)
X:57937312
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57910877:C:G
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
10.
rs1488839478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:57905481
(GRCh38)
X:57931915
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57905480:T:C
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488755903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:57910486
(GRCh38)
X:57936920
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57910485:C:A
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488716827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:57909670
(GRCh38)
X:57936104
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57909669:C:A
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
14.
rs1488381846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:57908056
(GRCh38)
X:57934490
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57908055:G:C
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0./0
(SGDP_PRJ)
C=0.000006/1
(GnomAD_exomes)
C=0.000015/4
(TOPMED)
C=0.000019/2
(GnomAD)
- HGVS:
15.
rs1488349795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:57909148
(GRCh38)
X:57935582
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57909147:G:A
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000011/2
(GnomAD_exomes)
- HGVS:
16.
rs1488267287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:57904532
(GRCh38)
X:57930966
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57904531:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
17.
rs1487475376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:57909009
(GRCh38)
X:57935443
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57909008:T:C
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
18.
rs1486904271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:57913415
(GRCh38)
X:57939849
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57913414:C:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1486649244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:57904202
(GRCh38)
X:57930636
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57904201:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
20.
rs1486507391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:57911269
(GRCh38)
X:57937703
(GRCh37)
- Canonical SPDI:
- NC_000023.11:57911268:T:C
- Gene:
- ZXDA (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS: