Links from Gene
Items: 1 to 20 of 1000
1.
rs1491576945 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 16:31437298
(GRCh38)
16:31448620
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31437298::C
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491103533 has merged into rs59710664 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:31437307
(GRCh38)
16:31448628
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:31437297:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.31437307_31437321del, NC_000016.10:g.31437308_31437321del, NC_000016.10:g.31437309_31437321del, NC_000016.10:g.31437310_31437321del, NC_000016.10:g.31437311_31437321del, NC_000016.10:g.31437312_31437321del, NC_000016.10:g.31437313_31437321del, NC_000016.10:g.31437314_31437321del, NC_000016.10:g.31437315_31437321del, NC_000016.10:g.31437316_31437321del, NC_000016.10:g.31437317_31437321del, NC_000016.10:g.31437318_31437321del, NC_000016.10:g.31437319_31437321del, NC_000016.10:g.31437320_31437321del, NC_000016.10:g.31437321del, NC_000016.10:g.31437321dup, NC_000016.10:g.31437320_31437321dup, NC_000016.10:g.31437319_31437321dup, NC_000016.10:g.31437318_31437321dup, NC_000016.10:g.31437317_31437321dup, NC_000016.10:g.31437316_31437321dup, NC_000016.10:g.31437313_31437321dup, NC_000016.10:g.31437312_31437321dup, NC_000016.10:g.31437311_31437321dup, NC_000016.10:g.31437310_31437321dup, NC_000016.10:g.31437309_31437321dup, NC_000016.10:g.31437308_31437321dup, NC_000016.10:g.31437307_31437321dup, NC_000016.10:g.31437306_31437321dup, NC_000016.10:g.31437305_31437321dup, NC_000016.10:g.31437304_31437321dup, NC_000016.10:g.31437303_31437321dup, NC_000016.10:g.31437302_31437321dup, NC_000016.10:g.31437301_31437321dup, NC_000016.10:g.31437300_31437321dup, NC_000016.10:g.31437299_31437321dup, NC_000016.10:g.31437321_31437322insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.31437321_31437322insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.31437321_31437322insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.31437321_31437322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.31448628_31448642del, NC_000016.9:g.31448629_31448642del, NC_000016.9:g.31448630_31448642del, NC_000016.9:g.31448631_31448642del, NC_000016.9:g.31448632_31448642del, NC_000016.9:g.31448633_31448642del, NC_000016.9:g.31448634_31448642del, NC_000016.9:g.31448635_31448642del, NC_000016.9:g.31448636_31448642del, NC_000016.9:g.31448637_31448642del, NC_000016.9:g.31448638_31448642del, NC_000016.9:g.31448639_31448642del, NC_000016.9:g.31448640_31448642del, NC_000016.9:g.31448641_31448642del, NC_000016.9:g.31448642del, NC_000016.9:g.31448642dup, NC_000016.9:g.31448641_31448642dup, NC_000016.9:g.31448640_31448642dup, NC_000016.9:g.31448639_31448642dup, NC_000016.9:g.31448638_31448642dup, NC_000016.9:g.31448637_31448642dup, NC_000016.9:g.31448634_31448642dup, NC_000016.9:g.31448633_31448642dup, NC_000016.9:g.31448632_31448642dup, NC_000016.9:g.31448631_31448642dup, NC_000016.9:g.31448630_31448642dup, NC_000016.9:g.31448629_31448642dup, NC_000016.9:g.31448628_31448642dup, NC_000016.9:g.31448627_31448642dup, NC_000016.9:g.31448626_31448642dup, NC_000016.9:g.31448625_31448642dup, NC_000016.9:g.31448624_31448642dup, NC_000016.9:g.31448623_31448642dup, NC_000016.9:g.31448622_31448642dup, NC_000016.9:g.31448621_31448642dup, NC_000016.9:g.31448620_31448642dup, NC_000016.9:g.31448642_31448643insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.31448642_31448643insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.31448642_31448643insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.31448642_31448643insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1490798247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 16:31442634
(GRCh38)
16:31453955
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31442633:A:T
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant,splice_donor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490773367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:31441747
(GRCh38)
16:31453068
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31441746:G:A
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490588409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 16:31435946
(GRCh38)
16:31447267
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31435945:C:A,NC_000016.10:31435945:C:G,NC_000016.10:31435945:C:T
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
T=0.00021/4
(TOMMO)
T=0.00109/2
(Korea1K)
- HGVS:
NC_000016.10:g.31435946C>A, NC_000016.10:g.31435946C>G, NC_000016.10:g.31435946C>T, NC_000016.9:g.31447267C>A, NC_000016.9:g.31447267C>G, NC_000016.9:g.31447267C>T, NM_001136509.3:c.904G>T, NM_001136509.3:c.904G>C, NM_001136509.3:c.904G>A, NM_001136509.2:c.904G>T, NM_001136509.2:c.904G>C, NM_001136509.2:c.904G>A, NM_001136509.1:c.904G>T, NM_001136509.1:c.904G>C, NM_001136509.1:c.904G>A, NM_001353381.1:c.904G>T, NM_001353381.1:c.904G>C, NM_001353381.1:c.904G>A, NP_001129981.1:p.Gly302Ter, NP_001129981.1:p.Gly302Arg, NP_001129981.1:p.Gly302Arg, NP_001340310.1:p.Gly302Ter, NP_001340310.1:p.Gly302Arg, NP_001340310.1:p.Gly302Arg
6.
rs1490265333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:31436729
(GRCh38)
16:31448050
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31436728:C:G
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000006/1
(GnomAD_exomes)
- HGVS:
8.
rs1489754510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:31436327
(GRCh38)
16:31447648
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31436326:C:A,NC_000016.10:31436326:C:T
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
NC_000016.10:g.31436327C>A, NC_000016.10:g.31436327C>T, NC_000016.9:g.31447648C>A, NC_000016.9:g.31447648C>T, NM_001136509.3:c.523G>T, NM_001136509.3:c.523G>A, NM_001136509.2:c.523G>T, NM_001136509.2:c.523G>A, NM_001136509.1:c.523G>T, NM_001136509.1:c.523G>A, NM_001353381.1:c.523G>T, NM_001353381.1:c.523G>A, NP_001129981.1:p.Gly175Cys, NP_001129981.1:p.Gly175Ser, NP_001340310.1:p.Gly175Cys, NP_001340310.1:p.Gly175Ser
9.
rs1489245065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:31436255
(GRCh38)
16:31447576
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31436254:A:G
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD_exomes)
G=0.000342/1
(KOREAN)
- HGVS:
10.
rs1489237016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:31439142
(GRCh38)
16:31450463
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31439141:A:G
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489202561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:31444448
(GRCh38)
16:31455769
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31444447:C:G
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1488770960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 16:31435996
(GRCh38)
16:31447317
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31435995:G:A,NC_000016.10:31435995:G:C,NC_000016.10:31435995:G:T
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000182/5
(
ALFA)
C=0.000032/4
(GnomAD_exomes)
C=0.00005/7
(GnomAD)
C=0.000893/4
(Estonian)
- HGVS:
NC_000016.10:g.31435996G>A, NC_000016.10:g.31435996G>C, NC_000016.10:g.31435996G>T, NC_000016.9:g.31447317G>A, NC_000016.9:g.31447317G>C, NC_000016.9:g.31447317G>T, NM_001136509.3:c.854C>T, NM_001136509.3:c.854C>G, NM_001136509.3:c.854C>A, NM_001136509.2:c.854C>T, NM_001136509.2:c.854C>G, NM_001136509.2:c.854C>A, NM_001136509.1:c.854C>T, NM_001136509.1:c.854C>G, NM_001136509.1:c.854C>A, NM_001353381.1:c.854C>T, NM_001353381.1:c.854C>G, NM_001353381.1:c.854C>A, NP_001129981.1:p.Ala285Val, NP_001129981.1:p.Ala285Gly, NP_001129981.1:p.Ala285Asp, NP_001340310.1:p.Ala285Val, NP_001340310.1:p.Ala285Gly, NP_001340310.1:p.Ala285Asp
13.
rs1488015557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:31437482
(GRCh38)
16:31448803
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31437481:T:C
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1487346504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:31437630
(GRCh38)
16:31448951
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31437629:T:C
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486717744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:31438765
(GRCh38)
16:31450086
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31438764:G:A
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486707722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:31444794
(GRCh38)
16:31456115
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31444793:C:T
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
18.
rs1486469356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:31435082
(GRCh38)
16:31446403
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31435081:T:A
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS:
19.
rs1486384546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:31437859
(GRCh38)
16:31449180
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31437858:C:T
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
20.
rs1486344153 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
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- Chromosome:
- 16:31437591
(GRCh38)
16:31448913
(GRCh37)
- Canonical SPDI:
- NC_000016.10:31437591:TA:TATA
- Gene:
- ZNF843 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
TA=0.000004/1
(TOPMED)
TA=0.000007/1
(GnomAD)
- HGVS: