Links from Gene
Items: 1 to 20 of 1641
1.
rs1491541091 has merged into rs71056543 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:62680366
(GRCh38)
11:62447838
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62680356:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.62680366_62680384del, NC_000011.10:g.62680367_62680384del, NC_000011.10:g.62680369_62680384del, NC_000011.10:g.62680371_62680384del, NC_000011.10:g.62680372_62680384del, NC_000011.10:g.62680373_62680384del, NC_000011.10:g.62680374_62680384del, NC_000011.10:g.62680375_62680384del, NC_000011.10:g.62680376_62680384del, NC_000011.10:g.62680377_62680384del, NC_000011.10:g.62680378_62680384del, NC_000011.10:g.62680379_62680384del, NC_000011.10:g.62680380_62680384del, NC_000011.10:g.62680381_62680384del, NC_000011.10:g.62680382_62680384del, NC_000011.10:g.62680383_62680384del, NC_000011.10:g.62680384del, NC_000011.10:g.62680384dup, NC_000011.10:g.62680383_62680384dup, NC_000011.10:g.62680382_62680384dup, NC_000011.10:g.62680381_62680384dup, NC_000011.10:g.62680380_62680384dup, NC_000011.10:g.62680376_62680384dup, NC_000011.10:g.62680372_62680384dup, NC_000011.9:g.62447838_62447856del, NC_000011.9:g.62447839_62447856del, NC_000011.9:g.62447841_62447856del, NC_000011.9:g.62447843_62447856del, NC_000011.9:g.62447844_62447856del, NC_000011.9:g.62447845_62447856del, NC_000011.9:g.62447846_62447856del, NC_000011.9:g.62447847_62447856del, NC_000011.9:g.62447848_62447856del, NC_000011.9:g.62447849_62447856del, NC_000011.9:g.62447850_62447856del, NC_000011.9:g.62447851_62447856del, NC_000011.9:g.62447852_62447856del, NC_000011.9:g.62447853_62447856del, NC_000011.9:g.62447854_62447856del, NC_000011.9:g.62447855_62447856del, NC_000011.9:g.62447856del, NC_000011.9:g.62447856dup, NC_000011.9:g.62447855_62447856dup, NC_000011.9:g.62447854_62447856dup, NC_000011.9:g.62447853_62447856dup, NC_000011.9:g.62447852_62447856dup, NC_000011.9:g.62447848_62447856dup, NC_000011.9:g.62447844_62447856dup
2.
rs1491504080 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:62680356
(GRCh38)
11:62447828
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62680355:CT:
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000123/14
(GnomAD)
- HGVS:
3.
rs1490469549 has merged into rs1245750986 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:62679736
(GRCh38)
11:62447208
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62679724:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.62679736_62679749del, NC_000011.10:g.62679739_62679749del, NC_000011.10:g.62679740_62679749del, NC_000011.10:g.62679741_62679749del, NC_000011.10:g.62679742_62679749del, NC_000011.10:g.62679743_62679749del, NC_000011.10:g.62679747_62679749del, NC_000011.10:g.62679748_62679749del, NC_000011.10:g.62679749del, NC_000011.10:g.62679749dup, NC_000011.10:g.62679748_62679749dup, NC_000011.10:g.62679747_62679749dup, NC_000011.10:g.62679746_62679749dup, NC_000011.10:g.62679745_62679749dup, NC_000011.10:g.62679744_62679749dup, NC_000011.9:g.62447208_62447221del, NC_000011.9:g.62447211_62447221del, NC_000011.9:g.62447212_62447221del, NC_000011.9:g.62447213_62447221del, NC_000011.9:g.62447214_62447221del, NC_000011.9:g.62447215_62447221del, NC_000011.9:g.62447219_62447221del, NC_000011.9:g.62447220_62447221del, NC_000011.9:g.62447221del, NC_000011.9:g.62447221dup, NC_000011.9:g.62447220_62447221dup, NC_000011.9:g.62447219_62447221dup, NC_000011.9:g.62447218_62447221dup, NC_000011.9:g.62447217_62447221dup, NC_000011.9:g.62447216_62447221dup
4.
rs1488850902 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 11:62680495
(GRCh38)
11:62447967
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62680494:A:
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488660530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62677131
(GRCh38)
11:62444603
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62677130:C:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
6.
rs1488636523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62678063
(GRCh38)
11:62445535
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62678062:C:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.62678063C>T, NC_000011.9:g.62445535C>T, NM_015853.5:c.346G>A, NM_015853.4:c.346G>A, NM_015853.3:c.346G>A, NM_001286077.2:c.346G>A, NM_001286077.1:c.346G>A, XM_017017874.2:c.346G>A, XM_017017874.1:c.346G>A, NM_001286078.2:c.169G>A, NM_001286078.1:c.169G>A, NP_056937.2:p.Glu116Lys, NP_001273006.1:p.Glu116Lys, XP_016873363.1:p.Glu116Lys, NP_001273007.1:p.Glu57Lys
7.
rs1488190539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:62677032
(GRCh38)
11:62444504
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62677031:T:C
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
8.
rs1487647050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:62680221
(GRCh38)
11:62447693
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62680220:G:A
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
9.
rs1487016213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62676234
(GRCh38)
11:62443706
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62676233:C:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486756807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62679040
(GRCh38)
11:62446512
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62679039:C:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
NC_000011.10:g.62679040C>T, NC_000011.9:g.62446512C>T, NM_015853.5:c.-117G>A, NM_015853.4:c.-117G>A, NM_015853.3:c.-117G>A, NM_001286077.2:c.-117G>A, NM_001286077.1:c.-117G>A, XM_017017874.2:c.-31G>A, XM_017017874.1:c.-31G>A, NM_001286078.2:c.-117G>A, NM_001286078.1:c.-117G>A
11.
rs1486650135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:62677017
(GRCh38)
11:62444489
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62677016:G:A,NC_000011.10:62677016:G:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1486544989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:62678975
(GRCh38)
11:62446447
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62678974:G:A,NC_000011.10:62678974:G:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.62678975G>A, NC_000011.10:g.62678975G>T, NC_000011.9:g.62446447G>A, NC_000011.9:g.62446447G>T, NM_015853.5:c.-52C>T, NM_015853.5:c.-52C>A, NM_015853.4:c.-52C>T, NM_015853.4:c.-52C>A, NM_015853.3:c.-52C>T, NM_015853.3:c.-52C>A, NM_001286077.2:c.-52C>T, NM_001286077.2:c.-52C>A, NM_001286077.1:c.-52C>T, NM_001286077.1:c.-52C>A, NM_001286078.2:c.-52C>T, NM_001286078.2:c.-52C>A, NM_001286078.1:c.-52C>T, NM_001286078.1:c.-52C>A
13.
rs1486100473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:62679284
(GRCh38)
11:62446756
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62679283:G:A
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
14.
rs1485788967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62678712
(GRCh38)
11:62446184
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62678711:C:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.62678712C>T, NC_000011.9:g.62446184C>T, NM_015853.5:c.91G>A, NM_015853.4:c.91G>A, NM_015853.3:c.91G>A, NM_001286077.2:c.91G>A, NM_001286077.1:c.91G>A, XM_017017874.2:c.91G>A, XM_017017874.1:c.91G>A, NM_001286078.2:c.91G>A, NM_001286078.1:c.91G>A, NP_056937.2:p.Gly31Ser, NP_001273006.1:p.Gly31Ser, XP_016873363.1:p.Gly31Ser, NP_001273007.1:p.Gly31Ser
15.
rs1484655782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:62679080
(GRCh38)
11:62446552
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62679079:G:A
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1484626585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:62677901
(GRCh38)
11:62445373
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62677900:C:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1484300193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:62677621
(GRCh38)
11:62445093
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62677620:A:T
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.62677621A>T, NC_000011.9:g.62445093A>T, NM_015853.5:c.548T>A, NM_015853.4:c.548T>A, NM_015853.3:c.548T>A, NM_001286077.2:c.548T>A, NM_001286077.1:c.548T>A, XM_017017874.2:c.548T>A, XM_017017874.1:c.548T>A, NM_001286078.2:c.371T>A, NM_001286078.1:c.371T>A, NP_056937.2:p.Val183Glu, NP_001273006.1:p.Val183Glu, XP_016873363.1:p.Val183Glu, NP_001273007.1:p.Val124Glu
18.
rs1483225950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:62680630
(GRCh38)
11:62448102
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62680629:T:C
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
19.
rs1483176212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:62679984
(GRCh38)
11:62447456
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62679983:G:A
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1483165922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:62679908
(GRCh38)
11:62447380
(GRCh37)
- Canonical SPDI:
- NC_000011.10:62679907:A:G
- Gene:
- UBXN1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000022/3
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS: