SNP Links for Gene (Select 1832) - SNP

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Select item 14915851871.

rs1491585187 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 6:7572361 (GRCh38)
6:7572595 (GRCh37)
Canonical SPDI:: NC_000006.12:7572361:GGGGG:GGGGGGG
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
GG=0.000007/1 (GnomAD)
GG=0.000019/5 (TOPMED)
GG=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.7572365_7572366dup, NC_000006.11:g.7572598_7572599dup, NG_008803.1:g.35729_35730dup

Select item 14915669982.

rs1491566998 has merged into rs33986567 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 6:7549164 (GRCh38)
6:7549397 (GRCh37)
Canonical SPDI:: NC_000006.12:7549152:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:7549152:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:7549152:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:7549152:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0.0007/4 (ALFA)
-=0.1537/396 (1000Genomes)
-=0.1549/597 (ALSPAC)
HGVS:: NC_000006.12:g.7549164_7549166del, NC_000006.12:g.7549165_7549166del, NC_000006.12:g.7549166del, NC_000006.12:g.7549166dup, NC_000006.11:g.7549397_7549399del, NC_000006.11:g.7549398_7549399del, NC_000006.11:g.7549399del, NC_000006.11:g.7549399dup, NG_008803.1:g.12528_12530del, NG_008803.1:g.12529_12530del, NG_008803.1:g.12530del, NG_008803.1:g.12530dup

Select item 14915524513.

rs1491552451 has merged into rs200091877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:7571186 (GRCh38)
6:7571419 (GRCh37)
Canonical SPDI:: NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7571176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
-=0.43171/2162 (1000Genomes)
HGVS:: NC_000006.12:g.7571186_7571194del, NC_000006.12:g.7571188_7571194del, NC_000006.12:g.7571189_7571194del, NC_000006.12:g.7571190_7571194del, NC_000006.12:g.7571191_7571194del, NC_000006.12:g.7571192_7571194del, NC_000006.12:g.7571193_7571194del, NC_000006.12:g.7571194del, NC_000006.12:g.7571194dup, NC_000006.12:g.7571193_7571194dup, NC_000006.12:g.7571192_7571194dup, NC_000006.12:g.7571191_7571194dup, NC_000006.11:g.7571419_7571427del, NC_000006.11:g.7571421_7571427del, NC_000006.11:g.7571422_7571427del, NC_000006.11:g.7571423_7571427del, NC_000006.11:g.7571424_7571427del, NC_000006.11:g.7571425_7571427del, NC_000006.11:g.7571426_7571427del, NC_000006.11:g.7571427del, NC_000006.11:g.7571427dup, NC_000006.11:g.7571426_7571427dup, NC_000006.11:g.7571425_7571427dup, NC_000006.11:g.7571424_7571427dup, NG_008803.1:g.34550_34558del, NG_008803.1:g.34552_34558del, NG_008803.1:g.34553_34558del, NG_008803.1:g.34554_34558del, NG_008803.1:g.34555_34558del, NG_008803.1:g.34556_34558del, NG_008803.1:g.34557_34558del, NG_008803.1:g.34558del, NG_008803.1:g.34558dup, NG_008803.1:g.34557_34558dup, NG_008803.1:g.34556_34558dup, NG_008803.1:g.34555_34558dup

Select item 14915273894.

rs1491527389 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:7545588 (GRCh38)
6:7545822 (GRCh37)
Canonical SPDI:: NC_000006.12:7545588:GGGG:GGGGG
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7545592dup, NC_000006.11:g.7545825dup, NG_008803.1:g.8956dup

Select item 14915235745.

rs1491523574 has merged into rs1554105404 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 6:7554127 (GRCh38)
6:7554360 (GRCh37)
Canonical SPDI:: NC_000006.12:7554125:CCC:C,NC_000006.12:7554125:CCC:CCCCC,NC_000006.12:7554125:CCC:CCCCCC,NC_000006.12:7554125:CCC:CCCCCCC,NC_000006.12:7554125:CCC:CCCCCCCC
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
CCCCC=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7554127_7554128del, NC_000006.12:g.7554127_7554128dup, NC_000006.12:g.7554126_7554128dup, NC_000006.12:g.7554128_7554129insCCCC, NC_000006.12:g.7554128_7554129insCCCCC, NC_000006.11:g.7554360_7554361del, NC_000006.11:g.7554360_7554361dup, NC_000006.11:g.7554359_7554361dup, NC_000006.11:g.7554361_7554362insCCCC, NC_000006.11:g.7554361_7554362insCCCCC, NG_008803.1:g.17491_17492del, NG_008803.1:g.17491_17492dup, NG_008803.1:g.17490_17492dup, NG_008803.1:g.17492_17493insCCCC, NG_008803.1:g.17492_17493insCCCCC

Select item 14915202666.

rs1491520266 has merged into rs61417378 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 6:7547615 (GRCh38)
6:7547848 (GRCh37)
Canonical SPDI:: NC_000006.12:7547601:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:7547601:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:7547601:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:7547601:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:7547601:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:7547601:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2416/1210 (1000Genomes)
HGVS:: NC_000006.12:g.7547615_7547617del, NC_000006.12:g.7547616_7547617del, NC_000006.12:g.7547617del, NC_000006.12:g.7547617dup, NC_000006.12:g.7547616_7547617dup, NC_000006.12:g.7547615_7547617dup, NC_000006.11:g.7547848_7547850del, NC_000006.11:g.7547849_7547850del, NC_000006.11:g.7547850del, NC_000006.11:g.7547850dup, NC_000006.11:g.7547849_7547850dup, NC_000006.11:g.7547848_7547850dup, NG_008803.1:g.10979_10981del, NG_008803.1:g.10980_10981del, NG_008803.1:g.10981del, NG_008803.1:g.10981dup, NG_008803.1:g.10980_10981dup, NG_008803.1:g.10979_10981dup

Select item 14914987207.

rs1491498720 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:7573238 (GRCh38)
6:7573471 (GRCh37)
Canonical SPDI:: NC_000006.12:7573237:AT:
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.7573238_7573239del, NC_000006.11:g.7573471_7573472del, NG_008803.1:g.36602_36603del

Select item 14914919098.

rs1491491909 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:7568395 (GRCh38)
6:7568628 (GRCh37)
Canonical SPDI:: NC_000006.12:7568392:CACA:CA
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0.000084/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7568393CA[1], NC_000006.11:g.7568626CA[1], NG_008803.1:g.31757CA[1]

Select item 14914506459.

rs1491450645 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACT [Show Flanks]
Chromosome:: 6:7573238 (GRCh38)
6:7573472 (GRCh37)
Canonical SPDI:: NC_000006.12:7573238:TGACT:TGACTGACT
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGACTGACT=0.000071/1 (ALFA)
TGAC=0.000029/4 (GnomAD)
TGAC=0.000042/11 (TOPMED)
HGVS:: NC_000006.12:g.7573240_7573243dup, NC_000006.11:g.7573473_7573476dup, NG_008803.1:g.36604_36607dup

Select item 149131186810.

rs1491311868 has merged into rs67361560 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:7552673 (GRCh38)
6:7552906 (GRCh37)
Canonical SPDI:: NC_000006.12:7552662:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:7552662:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:7552662:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:7552662:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:7552662:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:7552662:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:7552662:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:7552662:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.3954/1980 (1000Genomes)
T=0.4/16 (GENOME_DK)
HGVS:: NC_000006.12:g.7552673_7552677del, NC_000006.12:g.7552674_7552677del, NC_000006.12:g.7552675_7552677del, NC_000006.12:g.7552676_7552677del, NC_000006.12:g.7552677del, NC_000006.12:g.7552677dup, NC_000006.12:g.7552676_7552677dup, NC_000006.12:g.7552670_7552677dup, NC_000006.11:g.7552906_7552910del, NC_000006.11:g.7552907_7552910del, NC_000006.11:g.7552908_7552910del, NC_000006.11:g.7552909_7552910del, NC_000006.11:g.7552910del, NC_000006.11:g.7552910dup, NC_000006.11:g.7552909_7552910dup, NC_000006.11:g.7552903_7552910dup, NG_008803.1:g.16037_16041del, NG_008803.1:g.16038_16041del, NG_008803.1:g.16039_16041del, NG_008803.1:g.16040_16041del, NG_008803.1:g.16041del, NG_008803.1:g.16041dup, NG_008803.1:g.16040_16041dup, NG_008803.1:g.16034_16041dup

Select item 149129789911.

rs1491297899 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:7552663 (GRCh38)
6:7552897 (GRCh37)
Canonical SPDI:: NC_000006.12:7552663::G
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7552663_7552664insG, NC_000006.11:g.7552896_7552897insG, NG_008803.1:g.16027_16028insG

Select item 149129554912.

rs1491295549 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:7568393 (GRCh38)
6:7568627 (GRCh37)
Canonical SPDI:: NC_000006.12:7568393:A:AA
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7568394dup, NC_000006.11:g.7568627dup, NG_008803.1:g.31758dup

Select item 149128268213.

rs1491282682 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:7545588 (GRCh38)
6:7545821 (GRCh37)
Canonical SPDI:: NC_000006.12:7545587:AG:
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7545588_7545589del, NC_000006.11:g.7545821_7545822del, NG_008803.1:g.8952_8953del

Select item 149124321114.

rs1491243211 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:7547994 (GRCh38)
6:7548228 (GRCh37)
Canonical SPDI:: NC_000006.12:7547994:C:CC
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7547995dup, NC_000006.11:g.7548228dup, NG_008803.1:g.11359dup

Select item 149122269515.

rs1491222695 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:7549152 (GRCh38)
6:7549385 (GRCh37)
Canonical SPDI:: NC_000006.12:7549151:AT:
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00007/1 (ALFA)
-=0.00006/5 (GnomAD)
HGVS:: NC_000006.12:g.7549152_7549153del, NC_000006.11:g.7549385_7549386del, NG_008803.1:g.12516_12517del

Select item 149115649516.

rs1491156495 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:7585734 (GRCh38)
6:7585967 (GRCh37)
Canonical SPDI:: NC_000006.12:7585733:GT:
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000006.12:g.7585734_7585735del, NC_000006.11:g.7585967_7585968del, NG_008803.1:g.49098_49099del, NM_004415.4:c.8472_8473del, NM_004415.3:c.8472_8473del, NM_004415.2:c.8472_8473del, NM_001008844.3:c.6675_6676del, NM_001008844.2:c.6675_6676del, NM_001008844.1:c.6675_6676del, NM_001319034.2:c.7143_7144del, NM_001319034.1:c.7143_7144del, NP_004406.2:p.Ser2825fs, NP_001008844.1:p.Ser2226fs, NP_001305963.1:p.Ser2382fs

Select item 149113717517.

rs1491137175 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:7547997 (GRCh38)
6:7548230 (GRCh37)
Canonical SPDI:: NC_000006.12:7547993:GCGCG:GCG
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.7547995CG[1], NC_000006.11:g.7548228CG[1], NG_008803.1:g.11359CG[1]

Select item 149113148518.

rs1491131485 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:7572361 (GRCh38)
6:7572594 (GRCh37)
Canonical SPDI:: NC_000006.12:7572360:AG:
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.7572361_7572362del, NC_000006.11:g.7572594_7572595del, NG_008803.1:g.35725_35726del

Select item 149106386619.

rs1491063866 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 6:7582171 (GRCh38)
6:7582405 (GRCh37)
Canonical SPDI:: NC_000006.12:7582171::AC
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AC=0.00003/4 (GnomAD)
HGVS:: NC_000006.12:g.7582171_7582172insAC, NC_000006.11:g.7582404_7582405insAC, NG_008803.1:g.45535_45536insAC

Select item 149100103820.

rs1491001038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:7547241 (GRCh38)
6:7547474 (GRCh37)
Canonical SPDI:: NC_000006.12:7547240:A:G
Gene:: DSP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.7547241A>G, NC_000006.11:g.7547474A>G, NG_008803.1:g.10605A>G

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