Links from Gene
Items: 1 to 20 of 1000
2.
rs1491545696 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- X:43808699
(GRCh38)
X:43667946
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43808697:AGA:A
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
-=0.00008/7
(GnomAD)
-=0.00381/11
(ALSPAC)
-=0.00701/26
(TWINSUK)
- HGVS:
3.
rs1491502493 has merged into rs143045804 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:43810254
(GRCh38)
X:43669501
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43810242:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.43810254_43810268del, NC_000023.11:g.43810255_43810268del, NC_000023.11:g.43810256_43810268del, NC_000023.11:g.43810257_43810268del, NC_000023.11:g.43810258_43810268del, NC_000023.11:g.43810259_43810268del, NC_000023.11:g.43810260_43810268del, NC_000023.11:g.43810261_43810268del, NC_000023.11:g.43810262_43810268del, NC_000023.11:g.43810263_43810268del, NC_000023.11:g.43810264_43810268del, NC_000023.11:g.43810266_43810268del, NC_000023.11:g.43810267_43810268del, NC_000023.11:g.43810268del, NC_000023.11:g.43810268dup, NC_000023.11:g.43810267_43810268dup, NC_000023.11:g.43810266_43810268dup, NC_000023.11:g.43810265_43810268dup, NC_000023.11:g.43810264_43810268dup, NC_000023.11:g.43810261_43810268dup, NC_000023.10:g.43669501_43669515del, NC_000023.10:g.43669502_43669515del, NC_000023.10:g.43669503_43669515del, NC_000023.10:g.43669504_43669515del, NC_000023.10:g.43669505_43669515del, NC_000023.10:g.43669506_43669515del, NC_000023.10:g.43669507_43669515del, NC_000023.10:g.43669508_43669515del, NC_000023.10:g.43669509_43669515del, NC_000023.10:g.43669510_43669515del, NC_000023.10:g.43669511_43669515del, NC_000023.10:g.43669513_43669515del, NC_000023.10:g.43669514_43669515del, NC_000023.10:g.43669515del, NC_000023.10:g.43669515dup, NC_000023.10:g.43669514_43669515dup, NC_000023.10:g.43669513_43669515dup, NC_000023.10:g.43669512_43669515dup, NC_000023.10:g.43669511_43669515dup, NC_000023.10:g.43669508_43669515dup, NG_008723.2:g.77219_77233del, NG_008723.2:g.77220_77233del, NG_008723.2:g.77221_77233del, NG_008723.2:g.77222_77233del, NG_008723.2:g.77223_77233del, NG_008723.2:g.77224_77233del, NG_008723.2:g.77225_77233del, NG_008723.2:g.77226_77233del, NG_008723.2:g.77227_77233del, NG_008723.2:g.77228_77233del, NG_008723.2:g.77229_77233del, NG_008723.2:g.77231_77233del, NG_008723.2:g.77232_77233del, NG_008723.2:g.77233del, NG_008723.2:g.77233dup, NG_008723.2:g.77232_77233dup, NG_008723.2:g.77231_77233dup, NG_008723.2:g.77230_77233dup, NG_008723.2:g.77229_77233dup, NG_008723.2:g.77226_77233dup
4.
rs1491441682 has merged into rs1433628530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-,TCTC
[Show Flanks]
- Chromosome:
- X:43843357
(GRCh38)
X:43702603
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43843354:TCTC:TC,NC_000023.11:43843354:TCTC:TCTCTC
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTC=0./0
(
ALFA)
-=0.00009/1
(TOMMO)
- HGVS:
6.
rs1491192875 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:43781218
(GRCh38)
X:43640466
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43781218:T:TT
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
7.
rs1490926750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:43861362
(GRCh38)
X:43720608
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43861361:A:G
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant,genic_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:
8.
rs1490884456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:43767128
(GRCh38)
X:43626375
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43767127:C:T
- Gene:
- MAOB (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
9.
rs1490852940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:43883558
(GRCh38)
X:43742804
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43883557:T:A
- Gene:
- MAOB (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
10.
rs1490849806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:43807375
(GRCh38)
X:43666622
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43807374:G:T
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
11.
rs1490804225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:43872221
(GRCh38)
X:43731467
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43872220:C:T
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
12.
rs1490776468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:43795509
(GRCh38)
X:43654756
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43795508:C:T
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490748491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:43817069
(GRCh38)
X:43676316
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43817068:C:T
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000042/11
(TOPMED)
T=0.000059/6
(GnomAD)
- HGVS:
14.
rs1490732728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:43818279
(GRCh38)
X:43677526
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43818278:A:G
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
15.
rs1490705464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:43818822
(GRCh38)
X:43678069
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43818821:G:C
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
16.
rs1490608412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:43829326
(GRCh38)
X:43688572
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43829325:G:T
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
17.
rs1490542828 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- X:43817135
(GRCh38)
X:43676382
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43817134:C:
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00118/14
(
ALFA)
-=0.000599/60
(GnomAD)
-=0.000624/3
(1000Genomes)
- HGVS:
19.
rs1490527691 has merged into rs763016344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:43870805
(GRCh38)
X:43730051
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:43870794:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
AA=0.00106/4
(1000Genomes)
- HGVS:
NC_000023.11:g.43870805_43870819del, NC_000023.11:g.43870806_43870819del, NC_000023.11:g.43870807_43870819del, NC_000023.11:g.43870808_43870819del, NC_000023.11:g.43870809_43870819del, NC_000023.11:g.43870810_43870819del, NC_000023.11:g.43870811_43870819del, NC_000023.11:g.43870812_43870819del, NC_000023.11:g.43870813_43870819del, NC_000023.11:g.43870814_43870819del, NC_000023.11:g.43870815_43870819del, NC_000023.11:g.43870816_43870819del, NC_000023.11:g.43870817_43870819del, NC_000023.11:g.43870818_43870819del, NC_000023.11:g.43870819del, NC_000023.11:g.43870819dup, NC_000023.11:g.43870818_43870819dup, NC_000023.11:g.43870817_43870819dup, NC_000023.11:g.43870816_43870819dup, NC_000023.11:g.43870815_43870819dup, NC_000023.11:g.43870814_43870819dup, NC_000023.11:g.43870812_43870819dup, NC_000023.11:g.43870808_43870819dup, NC_000023.11:g.43870804_43870819dup, NC_000023.11:g.43870803_43870819dup, NC_000023.11:g.43870800_43870819dup, NC_000023.11:g.43870819_43870820insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.43870819_43870820insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.43730051_43730065del, NC_000023.10:g.43730052_43730065del, NC_000023.10:g.43730053_43730065del, NC_000023.10:g.43730054_43730065del, NC_000023.10:g.43730055_43730065del, NC_000023.10:g.43730056_43730065del, NC_000023.10:g.43730057_43730065del, NC_000023.10:g.43730058_43730065del, NC_000023.10:g.43730059_43730065del, NC_000023.10:g.43730060_43730065del, NC_000023.10:g.43730061_43730065del, NC_000023.10:g.43730062_43730065del, NC_000023.10:g.43730063_43730065del, NC_000023.10:g.43730064_43730065del, NC_000023.10:g.43730065del, NC_000023.10:g.43730065dup, NC_000023.10:g.43730064_43730065dup, NC_000023.10:g.43730063_43730065dup, NC_000023.10:g.43730062_43730065dup, NC_000023.10:g.43730061_43730065dup, NC_000023.10:g.43730060_43730065dup, NC_000023.10:g.43730058_43730065dup, NC_000023.10:g.43730054_43730065dup, NC_000023.10:g.43730050_43730065dup, NC_000023.10:g.43730049_43730065dup, NC_000023.10:g.43730046_43730065dup, NC_000023.10:g.43730065_43730066insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.43730065_43730066insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008723.2:g.16667_16681del, NG_008723.2:g.16668_16681del, NG_008723.2:g.16669_16681del, NG_008723.2:g.16670_16681del, NG_008723.2:g.16671_16681del, NG_008723.2:g.16672_16681del, NG_008723.2:g.16673_16681del, NG_008723.2:g.16674_16681del, NG_008723.2:g.16675_16681del, NG_008723.2:g.16676_16681del, NG_008723.2:g.16677_16681del, NG_008723.2:g.16678_16681del, NG_008723.2:g.16679_16681del, NG_008723.2:g.16680_16681del, NG_008723.2:g.16681del, NG_008723.2:g.16681dup, NG_008723.2:g.16680_16681dup, NG_008723.2:g.16679_16681dup, NG_008723.2:g.16678_16681dup, NG_008723.2:g.16677_16681dup, NG_008723.2:g.16676_16681dup, NG_008723.2:g.16674_16681dup, NG_008723.2:g.16670_16681dup, NG_008723.2:g.16666_16681dup, NG_008723.2:g.16665_16681dup, NG_008723.2:g.16662_16681dup, NG_008723.2:g.16681_16682insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008723.2:g.16681_16682insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1490491976 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- X:43794551
(GRCh38)
X:43653798
(GRCh37)
- Canonical SPDI:
- NC_000023.11:43794547:TGTGT:TGT
- Gene:
- MAOB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000039/4
(GnomAD)
- HGVS: