SNP Links for Gene (Select 8209) - SNP

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Select item 14915299291.

rs1491529929 has merged into rs1039849800 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT [Show Flanks]
Chromosome:: 21:44137690 (GRCh38)
21:45557572 (GRCh37)
Canonical SPDI:: NC_000021.9:44137678:TCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000021.9:44137678:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000021.9:44137678:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000021.9:44137678:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT
Gene:: GATD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCT=0./0 (ALFA)
-=0.0001/1 (TOMMO)
TC=0.00333/2 (NorthernSweden)
HGVS:: NC_000021.9:g.44137680CT[5], NC_000021.9:g.44137680CT[6], NC_000021.9:g.44137680CT[8], NC_000021.9:g.44137680CT[9], NC_000021.8:g.45557562CT[5], NC_000021.8:g.45557562CT[6], NC_000021.8:g.45557562CT[8], NC_000021.8:g.45557562CT[9], NG_021281.3:g.9068CT[5], NG_021281.3:g.9068CT[6], NG_021281.3:g.9068CT[8], NG_021281.3:g.9068CT[9]

Select item 14912833612.

rs1491283361 [Homo sapiens]

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

Select item 14909915473.

rs1490991547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44139147 (GRCh38)
21:45559029 (GRCh37)
Canonical SPDI:: NC_000021.9:44139146:G:A
Gene:: GATD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.44139147G>A, NC_000021.8:g.45559029G>A, NG_021281.3:g.10535G>A

Select item 14905565474.

rs1490556547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44138680 (GRCh38)
21:45558562 (GRCh37)
Canonical SPDI:: NC_000021.9:44138679:G:A
Gene:: GATD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.0002/3 (TOMMO)
HGVS:: NC_000021.9:g.44138680G>A, NC_000021.8:g.45558562G>A, NG_021281.3:g.10068G>A

Select item 14898463165.

rs1489846316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44139797 (GRCh38)
21:45559679 (GRCh37)
Canonical SPDI:: NC_000021.9:44139796:G:A
Gene:: GATD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000021.9:g.44139797G>A, NC_000021.8:g.45559679G>A, NG_021281.3:g.11185G>A

Select item 14896858706.

rs1489685870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44137898 (GRCh38)
21:45557780 (GRCh37)
Canonical SPDI:: NC_000021.9:44137897:C:T
Gene:: GATD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.44137898C>T, NC_000021.8:g.45557780C>T, NG_021281.3:g.9286C>T

Select item 14892712727.

rs1489271272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44141134 (GRCh38)
21:45561016 (GRCh37)
Canonical SPDI:: NC_000021.9:44141133:T:G
Gene:: GATD3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44141134T>G, NC_000021.8:g.45561016T>G, NG_021281.3:g.12522T>G, NM_001320384.2:c.*60T>G, NM_001320384.1:c.*60T>G

Select item 14892086188.

rs1489208618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44142759 (GRCh38)
21:45562641 (GRCh37)
Canonical SPDI:: NC_000021.9:44142758:C:T
Gene:: GATD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000021.9:g.44142759C>T, NC_000021.8:g.45562641C>T, NG_021281.3:g.14147C>T

Select item 14886193709.

rs1488619370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44133026 (GRCh38)
21:45552908 (GRCh37)
Canonical SPDI:: NC_000021.9:44133025:T:C
Gene:: GATD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.08759/1039 (ALFA)
C=0.00082/14 (TOMMO)
C=0.08832/257 (KOREAN)
HGVS:: NC_000021.9:g.44133026T>C, NC_000021.8:g.45552908T>C, NG_021281.3:g.4414T>C

Select item 148852930610.

rs1488529306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44143672 (GRCh38)
21:45563554 (GRCh37)
Canonical SPDI:: NC_000021.9:44143671:C:T
Gene:: GATD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000021.9:g.44143672C>T, NC_000021.8:g.45563554C>T, NG_021281.3:g.15060C>T

Select item 148848453011.

rs1488484530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44133597 (GRCh38)
21:45553479 (GRCh37)
Canonical SPDI:: NC_000021.9:44133596:A:G
Gene:: GATD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.44133597A>G, NC_000021.8:g.45553479A>G, NG_021281.3:g.4985A>G

Select item 148724444912.

rs1487244449 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148683730913.

rs1486837309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44141015 (GRCh38)
21:45560897 (GRCh37)
Canonical SPDI:: NC_000021.9:44141014:C:G
Gene:: GATD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.44141015C>G, NC_000021.8:g.45560897C>G, NG_021281.3:g.12403C>G, NM_001320384.2:c.595C>G, NM_001320384.1:c.595C>G, NP_001307313.1:p.Leu199Val

Select item 148671847014.

rs1486718470 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148652547815.

rs1486525478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44145166 (GRCh38)
21:45565048 (GRCh37)
Canonical SPDI:: NC_000021.9:44145165:C:T
Gene:: GATD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000021.9:g.44145166C>T, NC_000021.8:g.45565048C>T, NG_021281.3:g.16554C>T, NM_004649.8:c.*217C>T, NM_004649.7:c.*217C>T, NM_004649.6:c.*217C>T, NM_198155.5:c.*217C>T, NM_198155.4:c.*217C>T, NM_198155.3:c.*217C>T, NR_135220.2:n.986C>T, NR_135220.1:n.1057C>T, XM_017028479.2:c.*217C>T, XM_017028479.1:c.*217C>T

Select item 148632766716.

rs1486327667 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 21:44132135 (GRCh38)
21:45552017 (GRCh37)
Canonical SPDI:: NC_000021.9:44132131:AGAGA:AGA
Gene:: GATD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
-=0.0117/7 (NorthernSweden)
HGVS:: NC_000021.9:g.44132133GA[1], NC_000021.8:g.45552015GA[1], NG_021281.3:g.3521GA[1]

Select item 148600814217.

rs1486008142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44145595 (GRCh38)
21:45565477 (GRCh37)
Canonical SPDI:: NC_000021.9:44145594:C:T
Gene:: GATD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000021.9:g.44145595C>T, NC_000021.8:g.45565477C>T, NG_021281.3:g.16983C>T, NM_004649.8:c.*646C>T, NM_004649.7:c.*646C>T, NM_004649.6:c.*646C>T, NM_198155.5:c.*646C>T, NM_198155.4:c.*646C>T, NM_198155.3:c.*646C>T, NR_135220.2:n.1415C>T, NR_135220.1:n.1486C>T, XM_017028479.2:c.*646C>T, XM_017028479.1:c.*646C>T

Select item 148598651318.

rs1485986513 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGA>- [Show Flanks]
Chromosome:: 21:44141391 (GRCh38)
21:45561273 (GRCh37)
Canonical SPDI:: NC_000021.9:44141387:TGACTGA:TGA
Gene:: GATD3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44141391_44141394del, NC_000021.8:g.45561273_45561276del, NG_021281.3:g.12779_12782del, NM_001320384.2:c.*317_*320del, NM_001320384.1:c.*317_*320del, NM_001320383.2:c.749_752del, NM_001320383.1:c.749_752del, NP_001307312.1:p.Thr250fs

Select item 148581152119.

rs1485811521 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148567825520.

rs1485678255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44132716 (GRCh38)
21:45552598 (GRCh37)
Canonical SPDI:: NC_000021.9:44132715:G:A
Gene:: GATD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000021.9:g.44132716G>A, NC_000021.8:g.45552598G>A, NG_021281.3:g.4104G>A

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