SNP Links for Gene (Select 101927718) - SNP

Links from Gene

Items: 1 to 20 of 20084

<< First< Prev

Page of 1005

Next >Last >>

Select item 14915647981.

rs1491564798 has merged into rs10559508 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:31365448 (GRCh38)
18:28945411 (GRCh37)
Canonical SPDI:: NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31365438:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DSG1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.3744/1443 (ALSPAC)
-=0.4073/2040 (1000Genomes)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000018.10:g.31365448_31365457del, NC_000018.10:g.31365450_31365457del, NC_000018.10:g.31365451_31365457del, NC_000018.10:g.31365452_31365457del, NC_000018.10:g.31365454_31365457del, NC_000018.10:g.31365455_31365457del, NC_000018.10:g.31365456_31365457del, NC_000018.10:g.31365457del, NC_000018.10:g.31365457dup, NC_000018.10:g.31365456_31365457dup, NC_000018.10:g.31365455_31365457dup, NC_000018.10:g.31365454_31365457dup, NC_000018.10:g.31365453_31365457dup, NC_000018.10:g.31365452_31365457dup, NC_000018.10:g.31365445_31365457dup, NC_000018.9:g.28945411_28945420del, NC_000018.9:g.28945413_28945420del, NC_000018.9:g.28945414_28945420del, NC_000018.9:g.28945415_28945420del, NC_000018.9:g.28945417_28945420del, NC_000018.9:g.28945418_28945420del, NC_000018.9:g.28945419_28945420del, NC_000018.9:g.28945420del, NC_000018.9:g.28945420dup, NC_000018.9:g.28945419_28945420dup, NC_000018.9:g.28945418_28945420dup, NC_000018.9:g.28945417_28945420dup, NC_000018.9:g.28945416_28945420dup, NC_000018.9:g.28945415_28945420dup, NC_000018.9:g.28945408_28945420dup

Select item 14915056762.

rs1491505676 has merged into rs58572396 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:31398036 (GRCh38)
18:28977999 (GRCh37)
Canonical SPDI:: NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:31398026:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DSG4 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.31398036_31398049del, NC_000018.10:g.31398038_31398049del, NC_000018.10:g.31398039_31398049del, NC_000018.10:g.31398040_31398049del, NC_000018.10:g.31398041_31398049del, NC_000018.10:g.31398042_31398049del, NC_000018.10:g.31398043_31398049del, NC_000018.10:g.31398044_31398049del, NC_000018.10:g.31398046_31398049del, NC_000018.10:g.31398047_31398049del, NC_000018.10:g.31398048_31398049del, NC_000018.10:g.31398049del, NC_000018.10:g.31398049dup, NC_000018.10:g.31398048_31398049dup, NC_000018.10:g.31398047_31398049dup, NC_000018.10:g.31398046_31398049dup, NC_000018.10:g.31398045_31398049dup, NC_000018.10:g.31398044_31398049dup, NC_000018.10:g.31398043_31398049dup, NC_000018.10:g.31398049_31398050insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.28977999_28978012del, NC_000018.9:g.28978001_28978012del, NC_000018.9:g.28978002_28978012del, NC_000018.9:g.28978003_28978012del, NC_000018.9:g.28978004_28978012del, NC_000018.9:g.28978005_28978012del, NC_000018.9:g.28978006_28978012del, NC_000018.9:g.28978007_28978012del, NC_000018.9:g.28978009_28978012del, NC_000018.9:g.28978010_28978012del, NC_000018.9:g.28978011_28978012del, NC_000018.9:g.28978012del, NC_000018.9:g.28978012dup, NC_000018.9:g.28978011_28978012dup, NC_000018.9:g.28978010_28978012dup, NC_000018.9:g.28978009_28978012dup, NC_000018.9:g.28978008_28978012dup, NC_000018.9:g.28978007_28978012dup, NC_000018.9:g.28978006_28978012dup, NC_000018.9:g.28978012_28978013insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_013040.1:g.26260_26273del, NG_013040.1:g.26262_26273del, NG_013040.1:g.26263_26273del, NG_013040.1:g.26264_26273del, NG_013040.1:g.26265_26273del, NG_013040.1:g.26266_26273del, NG_013040.1:g.26267_26273del, NG_013040.1:g.26268_26273del, NG_013040.1:g.26270_26273del, NG_013040.1:g.26271_26273del, NG_013040.1:g.26272_26273del, NG_013040.1:g.26273del, NG_013040.1:g.26273dup, NG_013040.1:g.26272_26273dup, NG_013040.1:g.26271_26273dup, NG_013040.1:g.26270_26273dup, NG_013040.1:g.26269_26273dup, NG_013040.1:g.26268_26273dup, NG_013040.1:g.26267_26273dup, NG_013040.1:g.26273_26274insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914799383.

rs1491479938 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 18:31394680 (GRCh38)
18:28974643 (GRCh37)
Canonical SPDI:: NC_000018.10:31394679:GA:
Gene:: DSG4 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0007/13 (GnomAD)
HGVS:: NC_000018.10:g.31394680_31394681del, NC_000018.9:g.28974643_28974644del, NG_013040.1:g.22904_22905del

Select item 14914778214.

rs1491477821 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 18:31398049 (GRCh38)
18:28978012 (GRCh37)
Canonical SPDI:: NC_000018.10:31398048:AC:
Gene:: DSG4 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.31398049_31398050del, NC_000018.9:g.28978012_28978013del, NG_013040.1:g.26273_26274del

Select item 14914527335.

rs1491452733 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:31423279 (GRCh38)
18:29003243 (GRCh37)
Canonical SPDI:: NC_000018.10:31423279:G:GG
Gene:: DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000015/1 (GnomAD)
HGVS:: NC_000018.10:g.31423280dup, NC_000018.9:g.29003243dup

Select item 14914271966.

rs1491427196 [Homo sapiens]

Variant type:: SNV:
Alleles:: TG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914104087.

rs1491410408 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:31398026 (GRCh38)
18:28977989 (GRCh37)
Canonical SPDI:: NC_000018.10:31398025:CA:
Gene:: DSG4 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000018.10:g.31398026_31398027del, NC_000018.9:g.28977989_28977990del, NG_013040.1:g.26250_26251del

Select item 14914023568.

rs1491402356 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 18:31365457 (GRCh38)
18:28945420 (GRCh37)
Canonical SPDI:: NC_000018.10:31365456:AG:
Gene:: DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.31365457_31365458del, NC_000018.9:g.28945420_28945421del

Select item 14913205589.

rs1491320558 has merged into rs5823804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 18:31394690 (GRCh38)
18:28974653 (GRCh37)
Canonical SPDI:: NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:31394680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: DSG4 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.0347/174 (1000Genomes)
HGVS:: NC_000018.10:g.31394690_31394695del, NC_000018.10:g.31394692_31394695del, NC_000018.10:g.31394693_31394695del, NC_000018.10:g.31394694_31394695del, NC_000018.10:g.31394695del, NC_000018.10:g.31394695dup, NC_000018.9:g.28974653_28974658del, NC_000018.9:g.28974655_28974658del, NC_000018.9:g.28974656_28974658del, NC_000018.9:g.28974657_28974658del, NC_000018.9:g.28974658del, NC_000018.9:g.28974658dup, NG_013040.1:g.22914_22919del, NG_013040.1:g.22916_22919del, NG_013040.1:g.22917_22919del, NG_013040.1:g.22918_22919del, NG_013040.1:g.22919del, NG_013040.1:g.22919dup

Select item 149129423210.

rs1491294232 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 18:31365458 (GRCh38)
18:28945421 (GRCh37)
Canonical SPDI:: NC_000018.10:31365457:GG:G,NC_000018.10:31365457:GG:GGG
Gene:: DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.31365459del, NC_000018.10:g.31365459dup, NC_000018.9:g.28945422del, NC_000018.9:g.28945422dup

Select item 149129091611.

rs1491290916 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TAGTAGTG
Chromosome:: no mapping
Canonical SPDI:

Select item 149128806212.

rs1491288062 has merged into rs10633509 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:31424779 (GRCh38)
18:29004742 (GRCh37)
Canonical SPDI:: NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:31424765:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DSG1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4792/2400 (1000Genomes)
HGVS:: NC_000018.10:g.31424779_31424781del, NC_000018.10:g.31424780_31424781del, NC_000018.10:g.31424781del, NC_000018.10:g.31424781dup, NC_000018.10:g.31424780_31424781dup, NC_000018.10:g.31424779_31424781dup, NC_000018.10:g.31424778_31424781dup, NC_000018.10:g.31424775_31424781dup, NC_000018.10:g.31424772_31424781dup, NC_000018.10:g.31424771_31424781dup, NC_000018.10:g.31424769_31424781dup, NC_000018.10:g.31424768_31424781dup, NC_000018.9:g.29004742_29004744del, NC_000018.9:g.29004743_29004744del, NC_000018.9:g.29004744del, NC_000018.9:g.29004744dup, NC_000018.9:g.29004743_29004744dup, NC_000018.9:g.29004742_29004744dup, NC_000018.9:g.29004741_29004744dup, NC_000018.9:g.29004738_29004744dup, NC_000018.9:g.29004735_29004744dup, NC_000018.9:g.29004734_29004744dup, NC_000018.9:g.29004732_29004744dup, NC_000018.9:g.29004731_29004744dup

Select item 149112355013.

rs1491123550 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:31365438 (GRCh38)
18:28945401 (GRCh37)
Canonical SPDI:: NC_000018.10:31365437:CA:
Gene:: DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000018.10:g.31365438_31365439del, NC_000018.9:g.28945401_28945402del

Select item 149108552314.

rs1491085523 has merged into rs10708419 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 18:31395282 (GRCh38)
18:28975245 (GRCh37)
Canonical SPDI:: NC_000018.10:31395271:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:31395271:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:31395271:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:31395271:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:31395271:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:31395271:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: DSG4 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.24221/1213 (1000Genomes)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000018.10:g.31395282_31395285del, NC_000018.10:g.31395284_31395285del, NC_000018.10:g.31395285del, NC_000018.10:g.31395285dup, NC_000018.10:g.31395284_31395285dup, NC_000018.10:g.31395283_31395285dup, NC_000018.9:g.28975245_28975248del, NC_000018.9:g.28975247_28975248del, NC_000018.9:g.28975248del, NC_000018.9:g.28975248dup, NC_000018.9:g.28975247_28975248dup, NC_000018.9:g.28975246_28975248dup, NG_013040.1:g.23506_23509del, NG_013040.1:g.23508_23509del, NG_013040.1:g.23509del, NG_013040.1:g.23509dup, NG_013040.1:g.23508_23509dup, NG_013040.1:g.23507_23509dup

Select item 149107585015.

rs1491075850 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TAGTAGTGCTGTTTGCTAG
Chromosome:: no mapping
Canonical SPDI:

Select item 149096737816.

rs1490967378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:31371550 (GRCh38)
18:28951513 (GRCh37)
Canonical SPDI:: NC_000018.10:31371549:G:A
Gene:: DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000223/1 (Estonian)
A=0.001027/3 (KOREAN)
HGVS:: NC_000018.10:g.31371550G>A, NC_000018.9:g.28951513G>A

Select item 149096690417.

rs1490966904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:31353133 (GRCh38)
18:28933096 (GRCh37)
Canonical SPDI:: NC_000018.10:31353132:T:C
Gene:: DSG1 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.31353133T>C, NC_000018.9:g.28933096T>C, NG_011803.2:g.40045T>C

Select item 149089343818.

rs1490893438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:31366796 (GRCh38)
18:28946759 (GRCh37)
Canonical SPDI:: NC_000018.10:31366795:T:C
Gene:: DSG1-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:: NC_000018.10:g.31366796T>C, NC_000018.9:g.28946759T>C

Select item 149086299019.

rs1490862990 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 18:31342918 (GRCh38)
18:28922881 (GRCh37)
Canonical SPDI:: NC_000018.10:31342917:G:
Gene:: DSG1 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00056/9 (ALFA)
HGVS:: NC_000018.10:g.31342918del, NC_000018.9:g.28922881del, NG_011803.2:g.29830del

Select item 149083444520.

rs1490834445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 18:31382012 (GRCh38)
18:28961975 (GRCh37)
Canonical SPDI:: NC_000018.10:31382011:C:A,NC_000018.10:31382011:C:G,NC_000018.10:31382011:C:T
Gene:: DSG4 (Varview), DSG1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
G=0.000119/2 (TOMMO)
HGVS:: NC_000018.10:g.31382012C>A, NC_000018.10:g.31382012C>G, NC_000018.10:g.31382012C>T, NC_000018.9:g.28961975C>A, NC_000018.9:g.28961975C>G, NC_000018.9:g.28961975C>T, NG_013040.1:g.10236C>A, NG_013040.1:g.10236C>G, NG_013040.1:g.10236C>T

<< First< Prev

Page of 1005

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 20084

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity