Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491579596 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 18:31089165
(GRCh38)
18:28669129
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31089165::G
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00008/1
(
ALFA)
G=0.00098/21
(GnomAD)
G=0.00839/103
(TOMMO)
- HGVS:
2.
rs1491453437 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 18:31099603
(GRCh38)
18:28679567
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31099603:C:CC
- Gene:
- DSC2 (Varview), DSCAS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491426641 has merged into rs573964762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- 18:31082050
(GRCh38)
18:28662016
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31082041:AAAAAAAAAAA:AAAAAAAA,NC_000018.10:31082041:AAAAAAAAAAA:AAAAAAAAA,NC_000018.10:31082041:AAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:31082041:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.053512/32
(NorthernSweden)
-=0.072144/72
(GoNL)
-=0.072334/19146
(TOPMED)
- HGVS:
NC_000018.10:g.31082050_31082052del, NC_000018.10:g.31082051_31082052del, NC_000018.10:g.31082052del, NC_000018.10:g.31082052dup, NC_000018.9:g.28662016_28662018del, NC_000018.9:g.28662017_28662018del, NC_000018.9:g.28662018del, NC_000018.9:g.28662018dup, NG_008208.2:g.25382_25384del, NG_008208.2:g.25383_25384del, NG_008208.2:g.25384del, NG_008208.2:g.25384dup
4.
rs1491364379 has merged into rs768405529 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:31089179
(GRCh38)
18:28669142
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31089164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- likely-benign,benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000018.10:g.31089179_31089183del, NC_000018.10:g.31089181_31089183del, NC_000018.10:g.31089182_31089183del, NC_000018.10:g.31089183del, NC_000018.10:g.31089183dup, NC_000018.10:g.31089182_31089183dup, NC_000018.10:g.31089181_31089183dup, NC_000018.10:g.31089180_31089183dup, NC_000018.10:g.31089179_31089183dup, NC_000018.10:g.31089178_31089183dup, NC_000018.10:g.31089176_31089183dup, NC_000018.10:g.31089174_31089183dup, NC_000018.9:g.28669142_28669146del, NC_000018.9:g.28669144_28669146del, NC_000018.9:g.28669145_28669146del, NC_000018.9:g.28669146del, NC_000018.9:g.28669146dup, NC_000018.9:g.28669145_28669146dup, NC_000018.9:g.28669144_28669146dup, NC_000018.9:g.28669143_28669146dup, NC_000018.9:g.28669142_28669146dup, NC_000018.9:g.28669141_28669146dup, NC_000018.9:g.28669139_28669146dup, NC_000018.9:g.28669137_28669146dup, NG_008208.2:g.18257_18261del, NG_008208.2:g.18259_18261del, NG_008208.2:g.18260_18261del, NG_008208.2:g.18261del, NG_008208.2:g.18261dup, NG_008208.2:g.18260_18261dup, NG_008208.2:g.18259_18261dup, NG_008208.2:g.18258_18261dup, NG_008208.2:g.18257_18261dup, NG_008208.2:g.18256_18261dup, NG_008208.2:g.18254_18261dup, NG_008208.2:g.18252_18261dup
5.
rs1491109222 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 18:31099604
(GRCh38)
18:28679567
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31099602:GCG:G
- Gene:
- DSC2 (Varview), DSCAS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490993158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 18:31081887
(GRCh38)
18:28661853
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31081886:A:T
- Gene:
- DSC2 (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:
7.
rs1490979936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:31082936
(GRCh38)
18:28662902
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31082935:G:A
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000018.10:g.31082936G>A, NC_000018.9:g.28662902G>A, NG_008208.2:g.24490C>T, NM_024422.6:c.1067C>T, NM_024422.5:c.1067C>T, NM_024422.4:c.1067C>T, NM_024422.3:c.1067C>T, NM_004949.5:c.1067C>T, NM_004949.4:c.1067C>T, NM_004949.3:c.1067C>T, XM_005258206.5:c.638C>T, NM_001406507.1:c.638C>T, NM_001406506.1:c.638C>T, NP_077740.1:p.Thr356Ile, NP_004940.1:p.Thr356Ile, XP_005258263.1:p.Thr213Ile
8.
rs1490923833 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGAA>-
[Show Flanks]
- Chromosome:
- 18:31065958
(GRCh38)
18:28645924
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31065952:ATGAAATGAA:ATGAA
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
ATGAAATGAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490796668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 18:31084491
(GRCh38)
18:28664457
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31084490:T:A,NC_000018.10:31084490:T:C
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
10.
rs1490739919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:31084679
(GRCh38)
18:28664645
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31084678:C:T
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00051/6
(
ALFA)
T=0.0145/64
(Estonian)
T=0.02533/74
(KOREAN)
- HGVS:
13.
rs1490523115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:31101008
(GRCh38)
18:28680971
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31101007:C:T
- Gene:
- DSC2 (Varview), DSCAS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490510276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TACT>-
[Show Flanks]
- Chromosome:
- 18:31106069
(GRCh38)
18:28686032
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31106065:ACTTACT:ACT
- Gene:
- DSCAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490507065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:31064279
(GRCh38)
18:28644245
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31064278:C:T
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490425961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:31090196
(GRCh38)
18:28670159
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31090195:C:T
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490377784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:31073369
(GRCh38)
18:28653335
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31073368:A:G
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000019/1
(GnomAD)
- HGVS:
19.
rs1490206878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 18:31088867
(GRCh38)
18:28668830
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31088866:T:C,NC_000018.10:31088866:T:G
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490171586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 18:31068852
(GRCh38)
18:28648818
(GRCh37)
- Canonical SPDI:
- NC_000018.10:31068851:A:G,NC_000018.10:31068851:A:T
- Gene:
- DSC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS: