SNP Links for Gene (Select 54964) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:151045954 (GRCh38)
1:151018430 (GRCh37)
Canonical SPDI:: NC_000001.11:151045953:C:G
Gene:: C1orf56 (Varview), BNIPL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151045954C>G, NC_000001.10:g.151018430C>G, NG_029720.1:g.14402C>G

Select item 14906287356.

rs1490628735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:151047108 (GRCh38)
1:151019584 (GRCh37)
Canonical SPDI:: NC_000001.11:151047107:C:G,NC_000001.11:151047107:C:T
Gene:: C1orf56 (Varview), BNIPL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151047108C>G, NC_000001.11:g.151047108C>T, NC_000001.10:g.151019584C>G, NC_000001.10:g.151019584C>T, NG_029720.1:g.15556C>G, NG_029720.1:g.15556C>T, NM_138278.4:c.*421C>G, NM_138278.4:c.*421C>T, NM_138278.3:c.*421C>G, NM_138278.3:c.*421C>T, NM_001159642.2:c.*421C>G, NM_001159642.2:c.*421C>T, NM_001159642.1:c.*421C>G, NM_001159642.1:c.*421C>T, NM_138279.2:c.*788C>G, NM_138279.2:c.*788C>T, XM_024453496.2:c.*421C>G, XM_024453496.2:c.*421C>T, XM_024453496.1:c.*421C>G, XM_024453496.1:c.*421C>T, XM_047447315.1:c.*421C>G, XM_047447315.1:c.*421C>T, XM_047447313.1:c.*421C>G, XM_047447313.1:c.*421C>T

Select item 14897091427.

rs1489709142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:151050795 (GRCh38)
1:151023271 (GRCh37)
Canonical SPDI:: NC_000001.11:151050794:G:A,NC_000001.11:151050794:G:T
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151050795G>A, NC_000001.11:g.151050795G>T, NC_000001.10:g.151023271G>A, NC_000001.10:g.151023271G>T, NM_017860.5:c.*337G>A, NM_017860.5:c.*337G>T, NM_017860.4:c.*337G>A, NM_017860.4:c.*337G>T, NM_017860.3:c.*337G>A, NM_017860.3:c.*337G>T

Select item 14895564388.

rs1489556438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:151047026 (GRCh38)
1:151019502 (GRCh37)
Canonical SPDI:: NC_000001.11:151047025:C:G
Gene:: C1orf56 (Varview), BNIPL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.151047026C>G, NC_000001.10:g.151019502C>G, NG_029720.1:g.15474C>G, NM_138278.4:c.*339C>G, NM_138278.3:c.*339C>G, NM_001159642.2:c.*339C>G, NM_001159642.1:c.*339C>G, NM_138279.2:c.*706C>G, XM_024453496.2:c.*339C>G, XM_024453496.1:c.*339C>G, XM_047447315.1:c.*339C>G, XM_047447313.1:c.*339C>G

Select item 14891459149.

rs1489145914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:151047627 (GRCh38)
1:151020103 (GRCh37)
Canonical SPDI:: NC_000001.11:151047626:T:C,NC_000001.11:151047626:T:G
Gene:: C1orf56 (Varview), BNIPL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.151047627T>C, NC_000001.11:g.151047627T>G, NC_000001.10:g.151020103T>C, NC_000001.10:g.151020103T>G, NG_029720.1:g.16075T>C, NG_029720.1:g.16075T>G, NM_138278.4:c.*940T>C, NM_138278.4:c.*940T>G, NM_001159642.2:c.*940T>C, NM_001159642.2:c.*940T>G, XM_024453496.2:c.*940T>C, XM_024453496.2:c.*940T>G, XM_047447315.1:c.*940T>C, XM_047447315.1:c.*940T>G, XM_047447313.1:c.*940T>C, XM_047447313.1:c.*940T>G

Select item 148760880710.

rs1487608807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151046280 (GRCh38)
1:151018756 (GRCh37)
Canonical SPDI:: NC_000001.11:151046279:C:T
Gene:: C1orf56 (Varview), BNIPL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.151046280C>T, NC_000001.10:g.151018756C>T, NG_029720.1:g.14728C>T

Select item 148747545611.

rs1487475456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151048985 (GRCh38)
1:151021461 (GRCh37)
Canonical SPDI:: NC_000001.11:151048984:C:T
Gene:: C1orf56 (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_000001.11:g.151048985C>T, NC_000001.10:g.151021461C>T, NG_029720.1:g.17433C>T

Select item 148712277812.

rs1487122778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151048924 (GRCh38)
1:151021400 (GRCh37)
Canonical SPDI:: NC_000001.11:151048923:C:T
Gene:: C1orf56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000079/21 (TOPMED)
HGVS:: NC_000001.11:g.151048924C>T, NC_000001.10:g.151021400C>T, NG_029720.1:g.17372C>T

Select item 148615635213.

rs1486156352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:151046372 (GRCh38)
1:151018848 (GRCh37)
Canonical SPDI:: NC_000001.11:151046371:A:C
Gene:: C1orf56 (Varview), BNIPL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.151046372A>C, NC_000001.10:g.151018848A>C, NG_029720.1:g.14820A>C

Select item 148613809014.

rs1486138090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:151049386 (GRCh38)
1:151021862 (GRCh37)
Canonical SPDI:: NC_000001.11:151049385:G:A,NC_000001.11:151049385:G:T
Gene:: C1orf56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.151049386G>A, NC_000001.11:g.151049386G>T, NC_000001.10:g.151021862G>A, NC_000001.10:g.151021862G>T, NG_029720.1:g.17834G>A, NG_029720.1:g.17834G>T

Select item 148584017515.

rs1485840175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151050048 (GRCh38)
1:151022524 (GRCh37)
Canonical SPDI:: NC_000001.11:151050047:C:T
Gene:: C1orf56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151050048C>T, NC_000001.10:g.151022524C>T

Select item 148562399716.

rs1485623997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151050644 (GRCh38)
1:151023120 (GRCh37)
Canonical SPDI:: NC_000001.11:151050643:C:T
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151050644C>T, NC_000001.10:g.151023120C>T, NM_017860.5:c.*186C>T, NM_017860.4:c.*186C>T, NM_017860.3:c.*186C>T

Select item 148553330617.

rs1485533306 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACT>- [Show Flanks]
Chromosome:: 1:151049941 (GRCh38)
1:151022417 (GRCh37)
Canonical SPDI:: NC_000001.11:151049938:CTTACT:CT
Gene:: C1orf56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.00006/1 (TOMMO)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000001.11:g.151049941_151049944del, NC_000001.10:g.151022417_151022420del

Select item 148532351818.

rs1485323518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151051449 (GRCh38)
1:151023925 (GRCh37)
Canonical SPDI:: NC_000001.11:151051448:A:G
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.151051449A>G, NC_000001.10:g.151023925A>G, NM_020239.4:c.*1895T>C, NM_020239.3:c.*1895T>C, XM_017001847.3:c.*1895T>C, XM_017001847.2:c.*1895T>C, XM_017001847.1:c.*1895T>C, NM_001038707.2:c.*1895T>C, NM_001038707.1:c.*1895T>C

Select item 148419883819.

rs1484198838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151047288 (GRCh38)
1:151019764 (GRCh37)
Canonical SPDI:: NC_000001.11:151047287:C:T
Gene:: C1orf56 (Varview), BNIPL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.151047288C>T, NC_000001.10:g.151019764C>T, NG_029720.1:g.15736C>T, NM_138278.4:c.*601C>T, NM_138278.3:c.*601C>T, NM_001159642.2:c.*601C>T, NM_001159642.1:c.*601C>T, NM_138279.2:c.*968C>T, XM_024453496.2:c.*601C>T, XM_024453496.1:c.*601C>T, XM_047447315.1:c.*601C>T, XM_047447313.1:c.*601C>T

Select item 148413241920.

rs1484132419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151051396 (GRCh38)
1:151023872 (GRCh37)
Canonical SPDI:: NC_000001.11:151051395:A:G
Gene:: C1orf56 (Varview), CDC42SE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151051396A>G, NC_000001.10:g.151023872A>G, NM_017860.5:c.*938A>G, NM_017860.3:c.*938A>G, NM_020239.4:c.*1948T>C, NM_020239.3:c.*1948T>C, XM_017001847.3:c.*1948T>C, XM_017001847.2:c.*1948T>C, XM_017001847.1:c.*1948T>C, NM_001038707.2:c.*1948T>C, NM_001038707.1:c.*1948T>C

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