SNP Links for Gene (Select 79630) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 2123

<< First< Prev

Page of 107

Next >Last >>

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

<< First< Prev

Page of 107

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 79630) (2123)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: