SNP Links for Gene (Select 51012) - SNP

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Select item 14911738231.

rs1491173823 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:59034890 (GRCh38)
20:57609945 (GRCh37)
Canonical SPDI:: NC_000020.11:59034889:CA:
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.59034890_59034891del, NC_000020.10:g.57609945_57609946del, NG_031871.2:g.2477_2478del, NM_016045.3:c.*116_*117del, NM_016045.2:c.*116_*117del, NM_001256403.2:c.*116_*117del, NM_001256403.1:c.*116_*117del

Select item 14908145712.

rs1490814571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:59042824 (GRCh38)
20:57617879 (GRCh37)
Canonical SPDI:: NC_000020.11:59042823:C:G,NC_000020.11:59042823:C:T
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.59042824C>G, NC_000020.11:g.59042824C>T, NC_000020.10:g.57617879C>G, NC_000020.10:g.57617879C>T, NM_016045.2:c.-94G>C, NM_016045.2:c.-94G>A, NM_001256403.1:c.-94G>C, NM_001256403.1:c.-94G>A, NR_037929.1:n.23G>C, NR_037929.1:n.23G>A, NR_037930.1:n.23G>C, NR_037930.1:n.23G>A

Select item 14906503233.

rs1490650323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:59042518 (GRCh38)
20:57617573 (GRCh37)
Canonical SPDI:: NC_000020.11:59042517:G:A
Gene:: PRELID3B (Varview), SLMO2-ATP5E (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)
HGVS:: NC_000020.11:g.59042518G>A, NC_000020.10:g.57617573G>A

Select item 14904534104.

rs1490453410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:59034433 (GRCh38)
20:57609488 (GRCh37)
Canonical SPDI:: NC_000020.11:59034432:G:A
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.59034433G>A, NC_000020.10:g.57609488G>A, NG_031871.2:g.2935C>T, NM_016045.3:c.*574C>T, NM_016045.2:c.*574C>T, NM_001256403.2:c.*574C>T, NM_001256403.1:c.*574C>T

Select item 14902751995.

rs1490275199 [Homo sapiens]

Variant type:: DEL
Alleles:: AACAGTTGTCACTGT>- [Show Flanks]
Chromosome:: 20:59032905 (GRCh38)
20:57607960 (GRCh37)
Canonical SPDI:: NC_000020.11:59032904:AACAGTTGTCACTGT:
Gene:: ATP5F1E (Varview), PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.59032905_59032919del, NC_000020.10:g.57607960_57607974del, NG_031871.2:g.4449_4463del

Select item 14902365086.

rs1490236508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:59039055 (GRCh38)
20:57614110 (GRCh37)
Canonical SPDI:: NC_000020.11:59039054:G:A,NC_000020.11:59039054:G:T
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.59039055G>A, NC_000020.11:g.59039055G>T, NC_000020.10:g.57614110G>A, NC_000020.10:g.57614110G>T

Select item 14894842977.

rs1489484297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:59035970 (GRCh38)
20:57611025 (GRCh37)
Canonical SPDI:: NC_000020.11:59035969:G:C
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.59035970G>C, NC_000020.10:g.57611025G>C, NG_031871.2:g.1398C>G

Select item 14893019128.

rs1489301912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:59036948 (GRCh38)
20:57612003 (GRCh37)
Canonical SPDI:: NC_000020.11:59036947:A:G
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.59036948A>G, NC_000020.10:g.57612003A>G, NG_031871.2:g.420T>C

Select item 14892631519.

rs1489263151 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 20:59044829 (GRCh38)
20:57619884 (GRCh37)
Canonical SPDI:: NC_000020.11:59044828:AA:A
Gene:: SLMO2-ATP5E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.59044830del, NC_000020.10:g.57619885del

Select item 148858966210.

rs1488589662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:59042787 (GRCh38)
20:57617842 (GRCh37)
Canonical SPDI:: NC_000020.11:59042786:G:A
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.59042787G>A, NC_000020.10:g.57617842G>A, NM_016045.2:c.-57C>T, NM_001256403.1:c.-57C>T, NR_037929.1:n.60C>T, NR_037930.1:n.60C>T

Select item 148853612711.

rs1488536127 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 20:59036557 (GRCh38)
20:57611612 (GRCh37)
Canonical SPDI:: NC_000020.11:59036553:CTTCTT:CTT
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.59036554CTT[1], NC_000020.10:g.57611609CTT[1], NG_031871.2:g.809AAG[1], NM_016045.3:c.377AAG[1], NM_016045.2:c.377AAG[1], NM_001256403.2:c.287AAG[1], NM_001256403.1:c.287AAG[1], NR_037929.1:n.493AAG[1], NR_037930.1:n.234AAG[1], NP_057129.2:p.Glu127del, NP_001243332.1:p.Glu97del

Select item 148831383712.

rs1488313837 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:59035099 (GRCh38)
20:57610154 (GRCh37)
Canonical SPDI:: NC_000020.11:59035098:G:
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.59035099del, NC_000020.10:g.57610154del, NG_031871.2:g.2269del, NM_016045.3:c.493del, NM_016045.2:c.493del, NM_001256403.2:c.403del, NM_001256403.1:c.403del, NR_037929.1:n.609del, NR_037930.1:n.350del, NP_057129.2:p.His165fs, NP_001243332.1:p.His135fs

Select item 148826773413.

rs1488267734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:59042409 (GRCh38)
20:57617464 (GRCh37)
Canonical SPDI:: NC_000020.11:59042408:C:T
Gene:: PRELID3B (Varview), SLMO2-ATP5E (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:: NC_000020.11:g.59042409C>T, NC_000020.10:g.57617464C>T

Select item 148823666114.

rs1488236661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:59043027 (GRCh38)
20:57618082 (GRCh37)
Canonical SPDI:: NC_000020.11:59043026:C:A
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.59043027C>A, NC_000020.10:g.57618082C>A

Select item 148808642015.

rs1488086420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:59043948 (GRCh38)
20:57619003 (GRCh37)
Canonical SPDI:: NC_000020.11:59043947:G:A
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.59043948G>A, NC_000020.10:g.57619003G>A

Select item 148781421516.

rs1487814215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:59034337 (GRCh38)
20:57609392 (GRCh37)
Canonical SPDI:: NC_000020.11:59034336:C:T
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.59034337C>T, NC_000020.10:g.57609392C>T, NG_031871.2:g.3031G>A, NM_016045.3:c.*670G>A, NM_016045.2:c.*670G>A, NM_001256403.2:c.*670G>A, NM_001256403.1:c.*670G>A

Select item 148769941617.

rs1487699416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:59040804 (GRCh38)
20:57615859 (GRCh37)
Canonical SPDI:: NC_000020.11:59040803:C:A
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.59040804C>A, NC_000020.10:g.57615859C>A

Select item 148759757118.

rs1487597571 has merged into rs61329417 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:59038660 (GRCh38)
20:57613715 (GRCh37)
Canonical SPDI:: NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:59038649:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.59038660_59038668del, NC_000020.11:g.59038664_59038668del, NC_000020.11:g.59038665_59038668del, NC_000020.11:g.59038666_59038668del, NC_000020.11:g.59038667_59038668del, NC_000020.11:g.59038668del, NC_000020.11:g.59038668dup, NC_000020.11:g.59038667_59038668dup, NC_000020.11:g.59038666_59038668dup, NC_000020.10:g.57613715_57613723del, NC_000020.10:g.57613719_57613723del, NC_000020.10:g.57613720_57613723del, NC_000020.10:g.57613721_57613723del, NC_000020.10:g.57613722_57613723del, NC_000020.10:g.57613723del, NC_000020.10:g.57613723dup, NC_000020.10:g.57613722_57613723dup, NC_000020.10:g.57613721_57613723dup

Select item 148752138119.

rs1487521381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:59034915 (GRCh38)
20:57609970 (GRCh37)
Canonical SPDI:: NC_000020.11:59034914:C:G
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.59034915C>G, NC_000020.10:g.57609970C>G, NG_031871.2:g.2453G>C, NM_016045.3:c.*92G>C, NM_016045.2:c.*92G>C, NM_001256403.2:c.*92G>C, NM_001256403.1:c.*92G>C

Select item 148734262720.

rs1487342627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:59042882 (GRCh38)
20:57617937 (GRCh37)
Canonical SPDI:: NC_000020.11:59042881:C:T
Gene:: PRELID3B (Varview), SLMO2-ATP5E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.59042882C>T, NC_000020.10:g.57617937C>T

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