SNP Links for Gene (Select 9191) - SNP

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:161129276 (GRCh38)
1:161099066 (GRCh37)
Canonical SPDI:: NC_000001.11:161129275:G:A,NC_000001.11:161129275:G:T
Gene:: DEDD (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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.161129276G>A, NC_000001.11:g.161129276G>T, NC_000001.10:g.161099066G>A, NC_000001.10:g.161099066G>T

Select item 148920016110.

rs1489200161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161131835 (GRCh38)
1:161101625 (GRCh37)
Canonical SPDI:: NC_000001.11:161131834:A:G
Gene:: DEDD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161131835A>G, NC_000001.10:g.161101625A>G

Select item 148878913811.

rs1488789138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:161128143 (GRCh38)
1:161097933 (GRCh37)
Canonical SPDI:: NC_000001.11:161128142:T:A
Gene:: DEDD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.161128143T>A, NC_000001.10:g.161097933T>A

Select item 148827030812.

rs1488270308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161122158 (GRCh38)
1:161091948 (GRCh37)
Canonical SPDI:: NC_000001.11:161122157:C:T
Gene:: NIT1 (Varview), DEDD (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161122158C>T, NC_000001.10:g.161091948C>T, XM_005245600.4:c.1036G>A, XM_005245600.3:c.1036G>A, XM_005245600.2:c.1036G>A, XM_005245600.1:c.1036G>A, XM_005245599.4:c.1036G>A, XM_005245599.3:c.1036G>A, XM_005245599.2:c.1036G>A, XM_005245599.1:c.1036G>A, NM_032998.3:c.946G>A, NM_032998.2:c.946G>A, NM_001330765.2:c.1036G>A, NM_001330765.1:c.1036G>A, NM_001039711.2:c.946G>A, NM_001039711.1:c.946G>A, NM_001039712.2:c.946G>A, NM_001039712.1:c.946G>A, NM_004216.2:c.946G>A, NM_004216.1:c.946G>A, XP_005245657.1:p.Ala346Thr, XP_005245656.1:p.Ala346Thr, NP_127491.1:p.Ala316Thr, NP_001317694.1:p.Ala346Thr, NP_001034800.1:p.Ala316Thr, NP_001034801.1:p.Ala316Thr

Select item 148824861613.

rs1488248616 has merged into rs1261505444 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:161134223 (GRCh38)
1:161104013 (GRCh37)
Canonical SPDI:: NC_000001.11:161134222:AAAAAAAA:AAAAAAA,NC_000001.11:161134222:AAAAAAAA:AAAAAAAAA
Gene:: DEDD (Varview), LOC112543491 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000106/28 (TOPMED)
-=0.000312/2 (1000Genomes)
-=0.001092/2 (Korea1K)
A=0.00185/31 (TOMMO)
HGVS:: NC_000001.11:g.161134230del, NC_000001.11:g.161134230dup, NC_000001.10:g.161104020del, NC_000001.10:g.161104020dup

Select item 148823294514.

rs1488232945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161123002 (GRCh38)
1:161092792 (GRCh37)
Canonical SPDI:: NC_000001.11:161123001:G:A
Gene:: NIT1 (Varview), DEDD (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161123002G>A, NC_000001.10:g.161092792G>A, XM_005245600.4:c.653C>T, XM_005245600.3:c.653C>T, XM_005245600.2:c.653C>T, XM_005245600.1:c.653C>T, XM_005245599.4:c.653C>T, XM_005245599.3:c.653C>T, XM_005245599.2:c.653C>T, XM_005245599.1:c.653C>T, NM_001330765.2:c.653C>T, NM_001330765.1:c.653C>T, XP_005245657.1:p.Ala218Val, XP_005245656.1:p.Ala218Val, NP_001317694.1:p.Ala218Val

Select item 148783391015.

rs1487833910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161126361 (GRCh38)
1:161096151 (GRCh37)
Canonical SPDI:: NC_000001.11:161126360:T:C
Gene:: DEDD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.161126361T>C, NC_000001.10:g.161096151T>C

Select item 148743768716.

rs1487437687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161134292 (GRCh38)
1:161104082 (GRCh37)
Canonical SPDI:: NC_000001.11:161134291:G:A
Gene:: DEDD (Varview), LOC112543491 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.161134292G>A, NC_000001.10:g.161104082G>A

Select item 148736411417.

rs1487364114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:161124549 (GRCh38)
1:161094339 (GRCh37)
Canonical SPDI:: NC_000001.11:161124548:G:A,NC_000001.11:161124548:G:T
Gene:: NIT1 (Varview), DEDD (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.161124549G>A, NC_000001.11:g.161124549G>T, NC_000001.10:g.161094339G>A, NC_000001.10:g.161094339G>T, XM_024447363.2:c.*394G>A, XM_024447363.2:c.*394G>T, XM_024447363.1:c.*394G>A, XM_024447363.1:c.*394G>T, NM_001185092.2:c.*394G>A, NM_001185092.2:c.*394G>T, NM_001185092.1:c.*394G>A, NM_001185092.1:c.*394G>T, XM_047421417.1:c.*394G>A, XM_047421417.1:c.*394G>T

Select item 148725199518.

rs1487251995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:161121275 (GRCh38)
1:161091065 (GRCh37)
Canonical SPDI:: NC_000001.11:161121274:A:T
Gene:: NIT1 (Varview), DEDD (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161121275A>T, NC_000001.10:g.161091065A>T, XM_005245600.4:c.*872T>A, XM_005245600.3:c.*872T>A, XM_005245599.4:c.*872T>A, XM_005245599.3:c.*872T>A, NM_032998.3:c.*872T>A, NM_032998.2:c.*872T>A, NM_001330765.2:c.*872T>A, NM_001330765.1:c.*872T>A, NM_001039711.2:c.*872T>A, NM_001039711.1:c.*872T>A, NM_001039712.2:c.*872T>A, NM_001039712.1:c.*872T>A

Select item 148715150619.

rs1487151506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161127574 (GRCh38)
1:161097364 (GRCh37)
Canonical SPDI:: NC_000001.11:161127573:A:G
Gene:: DEDD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161127574A>G, NC_000001.10:g.161097364A>G

Select item 148680605520.

rs1486806055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161133206 (GRCh38)
1:161102996 (GRCh37)
Canonical SPDI:: NC_000001.11:161133205:C:G
Gene:: DEDD (Varview), LOC112543491 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161133206C>G, NC_000001.10:g.161102996C>G

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