SNP Links for Gene (Select 79630) - SNP

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Select item 14915871941.

rs1491587194 has merged into rs1242820754 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:150273042 (GRCh38)
1:150245445 (GRCh37)
Canonical SPDI:: NC_000001.11:150273041:GGGGG:GGGG,NC_000001.11:150273041:GGGGG:GGGGGG
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.150273046del, NC_000001.11:g.150273046dup, NW_003871055.3:g.7088459del, NW_003871055.3:g.7088459dup, NG_029952.2:g.974del, NG_029952.2:g.974dup, NG_029952.1:g.1165del, NG_029952.1:g.1165dup, NC_000001.10:g.150245449del, NC_000001.10:g.150245449dup

Select item 14915595172.

rs1491559517 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:150274913 (GRCh38)
1:150247319 (GRCh37)
Canonical SPDI:: NC_000001.11:150274913:A:AGA
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.000011/3 (TOPMED)
AG=0.002003/3 (GnomAD)
HGVS:: NC_000001.11:g.150274914_150274915insGA, NW_003871055.3:g.7090327_7090328insGA, NC_000001.10:g.150247319_150247320insGA

Select item 14911193063.

rs1491119306 has merged into rs34704617 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:150274924 (GRCh38)
1:150247329 (GRCh37)
Canonical SPDI:: NC_000001.11:150274912:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:150274912:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:150274912:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:150274912:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:150274912:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:150274912:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.150274924_150274925del, NC_000001.11:g.150274925del, NC_000001.11:g.150274925dup, NC_000001.11:g.150274924_150274925dup, NC_000001.11:g.150274923_150274925dup, NC_000001.11:g.150274922_150274925dup, NW_003871055.3:g.7090337_7090338del, NW_003871055.3:g.7090338del, NW_003871055.3:g.7090338dup, NW_003871055.3:g.7090337_7090338dup, NW_003871055.3:g.7090336_7090338dup, NW_003871055.3:g.7090335_7090338dup, NC_000001.10:g.150247331_150247332del, NC_000001.10:g.150247332del, NC_000001.10:g.150247332dup, NC_000001.10:g.150247331_150247332dup, NC_000001.10:g.150247330_150247332dup, NC_000001.10:g.150247329_150247332dup

Select item 14911077734.

rs1491107773 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:150273041 (GRCh38)
1:150245444 (GRCh37)
Canonical SPDI:: NC_000001.11:150273040:AG:
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150273041_150273042del, NW_003871055.3:g.7088454_7088455del, NG_029952.2:g.974_975del, NG_029952.1:g.1165_1166del, NC_000001.10:g.150245444_150245445del

Select item 14909822645.

rs1490982264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150273663 (GRCh38)
1:150246066 (GRCh37)
Canonical SPDI:: NC_000001.11:150273662:T:C
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.150273663T>C, NW_003871055.3:g.7089076T>C, NG_029952.2:g.353A>G, NG_029952.1:g.544A>G, NC_000001.10:g.150246066T>C

Select item 14909258176.

rs1490925817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:150274616 (GRCh38)
1:150247021 (GRCh37)
Canonical SPDI:: NC_000001.11:150274615:A:G,NC_000001.11:150274615:A:T
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.150274616A>G, NC_000001.11:g.150274616A>T, NW_003871055.3:g.7090029A>G, NW_003871055.3:g.7090029A>T, NC_000001.10:g.150247021A>G, NC_000001.10:g.150247021A>T

Select item 14898306177.

rs1489830617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150274119 (GRCh38)
1:150246522 (GRCh37)
Canonical SPDI:: NC_000001.11:150274118:G:A
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150274119G>A, NW_003871055.3:g.7089532G>A, NG_029952.1:g.88C>T, NC_000001.10:g.150246522G>A, NM_024579.4:c.79G>A, NM_024579.3:c.79G>A, XM_047430446.1:c.79G>A, XM_047430455.1:c.79G>A, NM_001301039.1:c.79G>A, NM_001301040.1:c.79G>A, NM_001301042.1:c.79G>A, NP_078855.2:p.Glu27Lys, XP_047286402.1:p.Glu27Lys, XP_047286411.1:p.Glu27Lys, NP_001287968.1:p.Glu27Lys, NP_001287969.1:p.Glu27Lys, NP_001287971.1:p.Glu27Lys

Select item 14898157988.

rs1489815798 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:150275042 (GRCh38)
1:150247450 (GRCh37)
Canonical SPDI:: NC_000001.11:150275042::T
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00015/5 (GnomAD)
HGVS:: NC_000001.11:g.150275042_150275043insT, NW_003871055.3:g.7090455_7090456insT, NC_000001.10:g.150247449_150247450insT

Select item 14893384999.

rs1489338499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150280122 (GRCh38)
1:150252533 (GRCh37)
Canonical SPDI:: NC_000001.11:150280121:G:A
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150280122G>A, NW_003871055.3:g.7095535G>A, NC_000001.10:g.150252533G>A

Select item 148922954510.

rs1489229545 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 1:150281363 (GRCh38)
1:150253775 (GRCh37)
Canonical SPDI:: NC_000001.11:150281363:AAA:AAAA,NC_000001.11:150281363:AAA:AAAAA
Gene:: C1orf54 (Varview), CIART (Varview), LOC124904414 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
AA=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150281366dup, NC_000001.11:g.150281365_150281366dup, NW_003871055.3:g.7096779dup, NW_003871055.3:g.7096778_7096779dup, NC_000001.10:g.150253777dup, NC_000001.10:g.150253776_150253777dup

Select item 148918258911.

rs1489182589 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:150276114 (GRCh38)
1:150248523 (GRCh37)
Canonical SPDI:: NC_000001.11:150276113:GGG:GG
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000162/3 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000065/9 (GnomAD)
-=0.00067/3 (Estonian)
HGVS:: NC_000001.11:g.150276116del, NW_003871055.3:g.7091529del, NC_000001.10:g.150248525del

Select item 148903939412.

rs1489039394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150277108 (GRCh38)
1:150249516 (GRCh37)
Canonical SPDI:: NC_000001.11:150277107:T:C
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150277108T>C, NW_003871055.3:g.7092521T>C, NC_000001.10:g.150249516T>C

Select item 148885295213.

rs1488852952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150275546 (GRCh38)
1:150247955 (GRCh37)
Canonical SPDI:: NC_000001.11:150275545:T:A
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150275546T>A, NW_003871055.3:g.7090959T>A, NC_000001.10:g.150247955T>A

Select item 148762145214.

rs1487621452 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:150272065 (GRCh38)
1:150244468 (GRCh37)
Canonical SPDI:: NC_000001.11:150272064:GGG:GG
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150272067del, NW_003871055.3:g.7087480del, NG_029952.2:g.1951del, NG_029952.1:g.2142del, NC_000001.10:g.150244470del

Select item 148750919415.

rs1487509194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:150273120 (GRCh38)
1:150245523 (GRCh37)
Canonical SPDI:: NC_000001.11:150273119:G:A,NC_000001.11:150273119:G:C
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.150273120G>A, NC_000001.11:g.150273120G>C, NW_003871055.3:g.7088533G>A, NW_003871055.3:g.7088533G>C, NG_029952.2:g.896C>T, NG_029952.2:g.896C>G, NG_029952.1:g.1087C>T, NG_029952.1:g.1087C>G, NC_000001.10:g.150245523G>A, NC_000001.10:g.150245523G>C

Select item 148663852416.

rs1486638524 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:150271149 (GRCh38)
1:150243552 (GRCh37)
Canonical SPDI:: NC_000001.11:150271147:TGT:T
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.150271149_150271150del, NW_003871055.3:g.7086562_7086563del, NG_029952.2:g.2867_2868del, NG_029952.1:g.3058_3059del, NC_000001.10:g.150243552_150243553del

Select item 148625639617.

rs1486256396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150277663 (GRCh38)
1:150250073 (GRCh37)
Canonical SPDI:: NC_000001.11:150277662:T:C
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150277663T>C, NW_003871055.3:g.7093076T>C, NC_000001.10:g.150250073T>C

Select item 148622669718.

rs1486226697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150278898 (GRCh38)
1:150251309 (GRCh37)
Canonical SPDI:: NC_000001.11:150278897:G:A
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.004717/1 (Vietnamese)
HGVS:: NC_000001.11:g.150278898G>A, NW_003871055.3:g.7094311G>A, NC_000001.10:g.150251309G>A

Select item 148591633919.

rs1485916339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150277085 (GRCh38)
1:150249493 (GRCh37)
Canonical SPDI:: NC_000001.11:150277084:G:C
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150277085G>C, NW_003871055.3:g.7092498G>C, NC_000001.10:g.150249493G>C

Select item 148584727520.

rs1485847275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150274467 (GRCh38)
1:150246870 (GRCh37)
Canonical SPDI:: NC_000001.11:150274466:G:A
Gene:: C1orf54 (Varview), LOC124904414 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.150274467G>A, NW_003871055.3:g.7089880G>A, NC_000001.10:g.150246870G>A