Links from Gene
Items: 1 to 20 of 14419
3.
rs1491491430 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,CAGA
[Show Flanks]
- Chromosome:
- 4:107923506
(GRCh38)
4:108844663
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107923506:A:AA,NC_000004.12:107923506:A:ACAGA
- Gene:
- CYP2U1-AS1 (Varview), LOC107986298 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAGA=0./0
(
ALFA)
ACAG=0.000011/3
(TOPMED)
- HGVS:
5.
rs1491131953 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 4:107885227
(GRCh38)
4:108806383
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107885226:AT:
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
- HGVS:
6.
rs1491119757 has merged into rs774442653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:107877922
(GRCh38)
4:108799078
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:107877913:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.107877922_107877933del, NC_000004.12:g.107877923_107877933del, NC_000004.12:g.107877925_107877933del, NC_000004.12:g.107877926_107877933del, NC_000004.12:g.107877927_107877933del, NC_000004.12:g.107877928_107877933del, NC_000004.12:g.107877929_107877933del, NC_000004.12:g.107877930_107877933del, NC_000004.12:g.107877932_107877933del, NC_000004.12:g.107877933del, NC_000004.12:g.107877933dup, NC_000004.12:g.107877932_107877933dup, NC_000004.12:g.107877931_107877933dup, NC_000004.12:g.107877930_107877933dup, NC_000004.12:g.107877929_107877933dup, NC_000004.12:g.107877928_107877933dup, NC_000004.12:g.107877927_107877933dup, NC_000004.12:g.107877926_107877933dup, NC_000004.12:g.107877925_107877933dup, NC_000004.12:g.107877924_107877933dup, NC_000004.12:g.107877923_107877933dup, NC_000004.12:g.107877922_107877933dup, NC_000004.12:g.107877921_107877933dup, NC_000004.12:g.107877920_107877933dup, NC_000004.12:g.107877919_107877933dup, NC_000004.12:g.107877918_107877933dup, NC_000004.12:g.107877917_107877933dup, NC_000004.12:g.107877916_107877933dup, NC_000004.12:g.107877915_107877933dup, NC_000004.12:g.107877914_107877933dup, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.107877933_107877934insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799078_108799089del, NC_000004.11:g.108799079_108799089del, NC_000004.11:g.108799081_108799089del, NC_000004.11:g.108799082_108799089del, NC_000004.11:g.108799083_108799089del, NC_000004.11:g.108799084_108799089del, NC_000004.11:g.108799085_108799089del, NC_000004.11:g.108799086_108799089del, NC_000004.11:g.108799088_108799089del, NC_000004.11:g.108799089del, NC_000004.11:g.108799089dup, NC_000004.11:g.108799088_108799089dup, NC_000004.11:g.108799087_108799089dup, NC_000004.11:g.108799086_108799089dup, NC_000004.11:g.108799085_108799089dup, NC_000004.11:g.108799084_108799089dup, NC_000004.11:g.108799083_108799089dup, NC_000004.11:g.108799082_108799089dup, NC_000004.11:g.108799081_108799089dup, NC_000004.11:g.108799080_108799089dup, NC_000004.11:g.108799079_108799089dup, NC_000004.11:g.108799078_108799089dup, NC_000004.11:g.108799077_108799089dup, NC_000004.11:g.108799076_108799089dup, NC_000004.11:g.108799075_108799089dup, NC_000004.11:g.108799074_108799089dup, NC_000004.11:g.108799073_108799089dup, NC_000004.11:g.108799072_108799089dup, NC_000004.11:g.108799071_108799089dup, NC_000004.11:g.108799070_108799089dup, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.108799089_108799090insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491026201 has merged into rs70947101 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACA>-,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 4:107923498
(GRCh38)
4:108844654
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000004.12:107923486:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
- Gene:
- CYP2U1-AS1 (Varview), LOC107986298 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
AC=0.025/1
(GENOME_DK)
AC=0.06167/37
(NorthernSweden)
- HGVS:
NC_000004.12:g.107923488CA[5], NC_000004.12:g.107923488CA[7], NC_000004.12:g.107923488CA[8], NC_000004.12:g.107923488CA[9], NC_000004.12:g.107923488CA[11], NC_000004.12:g.107923488CA[12], NC_000004.12:g.107923488CA[13], NC_000004.12:g.107923488CA[14], NC_000004.12:g.107923488CA[15], NC_000004.12:g.107923488CA[18], NC_000004.11:g.108844644CA[5], NC_000004.11:g.108844644CA[7], NC_000004.11:g.108844644CA[8], NC_000004.11:g.108844644CA[9], NC_000004.11:g.108844644CA[11], NC_000004.11:g.108844644CA[12], NC_000004.11:g.108844644CA[13], NC_000004.11:g.108844644CA[14], NC_000004.11:g.108844644CA[15], NC_000004.11:g.108844644CA[18]
8.
rs1490892647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:107872209
(GRCh38)
4:108793365
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107872208:T:C
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490845370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:107871052
(GRCh38)
4:108792208
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107871051:G:A
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490773491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:107915193
(GRCh38)
4:108836349
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107915192:G:A
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview), LOC107986298 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
11.
rs1490755916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 4:107897294
(GRCh38)
4:108818450
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107897293:G:C,NC_000004.12:107897293:G:T
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490664265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 4:107932236
(GRCh38)
4:108853392
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107932235:C:A,NC_000004.12:107932235:C:G
- Gene:
- CYP2U1 (Varview), CYP2U1-AS1 (Varview), LOC107986298 (Varview), LOC124900751 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
15.
rs1490645845 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:107875860
(GRCh38)
4:108797016
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107875859:C:T
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0009/4
(
ALFA)
T=0.0007/3
(Estonian)
- HGVS:
16.
rs1490621945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:107915787
(GRCh38)
4:108836943
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107915786:T:G
- Gene:
- CYP2U1-AS1 (Varview), LOC107986298 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490619694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:107878539
(GRCh38)
4:108799695
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107878538:A:G
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490594071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:107882235
(GRCh38)
4:108803391
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107882234:C:A
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490568192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:107899027
(GRCh38)
4:108820183
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107899026:C:A
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490433428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 4:107914876
(GRCh38)
4:108836032
(GRCh37)
- Canonical SPDI:
- NC_000004.12:107914875:A:C,NC_000004.12:107914875:A:G
- Gene:
- SGMS2 (Varview), CYP2U1-AS1 (Varview), LOC107986298 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000004.12:g.107914876A>C, NC_000004.12:g.107914876A>G, NC_000004.11:g.108836032A>C, NC_000004.11:g.108836032A>G, NM_152621.6:c.*4323A>C, NM_152621.6:c.*4323A>G, NM_152621.5:c.*4323A>C, NM_152621.5:c.*4323A>G, XM_011531701.3:c.*4323A>C, XM_011531701.3:c.*4323A>G, XM_011531701.2:c.*4323A>C, XM_011531701.2:c.*4323A>G, XM_011531701.1:c.*4323A>C, XM_011531701.1:c.*4323A>G, XM_011531699.2:c.*4323A>C, XM_011531699.2:c.*4323A>G, XM_011531699.1:c.*4323A>C, XM_011531699.1:c.*4323A>G, NM_001136258.2:c.*4323A>C, NM_001136258.2:c.*4323A>G, NM_001136258.1:c.*4323A>C, NM_001136258.1:c.*4323A>G, NM_001136257.2:c.*4323A>C, NM_001136257.2:c.*4323A>G, NM_001136257.1:c.*4323A>C, NM_001136257.1:c.*4323A>G, XM_047449716.1:c.*4323A>C, XM_047449716.1:c.*4323A>G, XM_047449715.1:c.*4323A>C, XM_047449715.1:c.*4323A>G, XM_047449713.1:c.*4323A>C, XM_047449713.1:c.*4323A>G, XM_047449714.1:c.*4323A>C, XM_047449714.1:c.*4323A>G, NM_001375906.1:c.*4323A>C, NM_001375906.1:c.*4323A>G, XM_047449717.1:c.*4323A>C, XM_047449717.1:c.*4323A>G, NM_001375907.1:c.*4323A>C, NM_001375907.1:c.*4323A>G, NM_001375905.1:c.*4323A>C, NM_001375905.1:c.*4323A>G, NM_001375908.1:c.*4323A>C, NM_001375908.1:c.*4323A>G, NM_001375910.1:c.*4525A>C, NM_001375910.1:c.*4525A>G, XM_047449719.1:c.*4525A>C, XM_047449719.1:c.*4525A>G, XM_047449718.1:c.*4525A>C, XM_047449718.1:c.*4525A>G, NM_001375911.1:c.*4323A>C, NM_001375911.1:c.*4323A>G