SNP Links for Nucleotide (Select 557440913) - SNP

Links from Nucleotide

Items: 1 to 20 of 655

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Select item 14904279601.

rs1490427960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130338762 (GRCh38)
2:131096335 (GRCh37)
Canonical SPDI:: NC_000002.12:130338761:C:T
Gene:: CCDC115 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.130338762C>T, NC_000002.11:g.131096335C>T, NG_046779.1:g.9049G>A, NM_032357.4:c.*358G>A, NM_032357.3:c.*358G>A, NM_032357.2:c.*358G>A, NR_135548.2:n.1143G>A, NR_135548.1:n.1362G>A, NM_001321119.2:c.*358G>A, NM_001321119.1:c.*358G>A, NR_104471.1:n.1541G>A, NM_001321118.1:c.*358G>A

Select item 14898966702.

rs1489896670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130342297 (GRCh38)
2:131099870 (GRCh37)
Canonical SPDI:: NC_000002.12:130342296:A:G
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.130342297A>G, NC_000002.11:g.131099870A>G, NG_046779.1:g.5514T>C, NR_104471.1:n.385T>C, NM_001321118.1:c.-68T>C, NM_032357.3:c.-172T>C, NM_033416.2:c.-636A>G, NM_032357.2:c.-172T>C, NM_001320309.1:c.-1041A>G, NM_001320307.1:c.-841A>G, NM_001320310.1:c.-918A>G, NM_001320311.1:c.-918A>G, NM_001320306.1:c.-814A>G, NM_001320304.1:c.-636A>G, NM_001320305.1:c.-636A>G, NR_135548.1:n.87T>C

Select item 14872159773.

rs1487215977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130341881 (GRCh38)
2:131099454 (GRCh37)
Canonical SPDI:: NC_000002.12:130341880:A:G
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130341881A>G, NC_000002.11:g.131099454A>G, NG_046779.1:g.5930T>C, NM_032357.4:c.175T>C, NM_032357.3:c.175T>C, NM_032357.2:c.175T>C, NR_135548.2:n.214T>C, NR_135548.1:n.433T>C, NM_001321119.2:c.151T>C, NM_001321119.1:c.31T>C, NR_104471.1:n.612T>C, NM_001321118.1:c.160T>C, NP_115733.2:p.Tyr59His, NP_001308048.2:p.Tyr51His, NP_001308047.1:p.Tyr54His

Select item 14871144984.

rs1487114498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:130339651 (GRCh38)
2:131097224 (GRCh37)
Canonical SPDI:: NC_000002.12:130339650:G:T
Gene:: CCDC115 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000041/6 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130339651G>T, NC_000002.11:g.131097224G>T, NG_046779.1:g.8160C>A, NR_135548.2:n.581C>A, NR_135548.1:n.800C>A, NR_104471.1:n.979C>A

Select item 14871020735.

rs1487102073 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:130341894 (GRCh38)
2:131099468 (GRCh37)
Canonical SPDI:: NC_000002.12:130341894:A:AA
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130341895dup, NC_000002.11:g.131099468dup, NG_046779.1:g.5916dup, NM_032357.4:c.161dup, NM_032357.3:c.161dup, NM_032357.2:c.161dup, NR_135548.2:n.200dup, NR_135548.1:n.419dup, NM_001321119.2:c.137dup, NM_001321119.1:c.17dup, NR_104471.1:n.598dup, NM_001321118.1:c.146dup, NP_115733.2:p.Gly55fs, NP_001308048.2:p.Gly47fs, NP_001308047.1:p.Gly50fs

Select item 14864271196.

rs1486427119 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:130338885 (GRCh38)
2:131096458 (GRCh37)
Canonical SPDI:: NC_000002.12:130338880:GTGTGT:GTGT
Gene:: CCDC115 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.130338881GT[2], NC_000002.11:g.131096454GT[2], NG_046779.1:g.8925AC[2], NM_032357.4:c.*234AC[2], NM_032357.3:c.*234AC[2], NM_032357.2:c.*234AC[2], NR_135548.2:n.1019AC[2], NR_135548.1:n.1238AC[2], NM_001321119.2:c.*234AC[2], NM_001321119.1:c.*234AC[2], NR_104471.1:n.1417AC[2], NM_001321118.1:c.*234AC[2]

Select item 14845496907.

rs1484549690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:130342178 (GRCh38)
2:131099751 (GRCh37)
Canonical SPDI:: NC_000002.12:130342177:T:A
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130342178T>A, NC_000002.11:g.131099751T>A, NG_046779.1:g.5633A>T, NR_104471.1:n.504A>T, NM_001321118.1:c.52A>T, NM_032357.3:c.-53A>T, NM_032357.2:c.-53A>T, NR_135548.1:n.206A>T, NP_001308047.1:p.Lys18Ter

Select item 14813780658.

rs1481378065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130342542 (GRCh38)
2:131100115 (GRCh37)
Canonical SPDI:: NC_000002.12:130342541:G:A
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_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_000002.12:g.130342542G>A, NC_000002.11:g.131100115G>A, NG_046779.1:g.5269C>T, NR_104471.1:n.140C>T, NM_001321118.1:c.-313C>T, NM_033416.2:c.-391G>A, NM_001320309.1:c.-796G>A, NM_001320307.1:c.-596G>A, NM_001320310.1:c.-673G>A, NM_001320311.1:c.-673G>A, NM_001320306.1:c.-569G>A, NM_001320304.1:c.-391G>A, NM_001320305.1:c.-391G>A

Select item 14806285629.

rs1480628562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130338548 (GRCh38)
2:131096121 (GRCh37)
Canonical SPDI:: NC_000002.12:130338547:A:G
Gene:: CCDC115 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.130338548A>G, NC_000002.11:g.131096121A>G, NG_046779.1:g.9263T>C, NM_032357.4:c.*572T>C, NM_032357.3:c.*572T>C, NM_032357.2:c.*572T>C, NR_135548.2:n.1357T>C, NR_135548.1:n.1576T>C, NM_001321119.2:c.*572T>C, NM_001321119.1:c.*572T>C, NR_104471.1:n.1755T>C, NM_001321118.1:c.*572T>C

Select item 147791987110.

rs1477919871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:130341021 (GRCh38)
2:131098594 (GRCh37)
Canonical SPDI:: NC_000002.12:130341020:C:A,NC_000002.12:130341020:C:T
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_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_000002.12:g.130341021C>A, NC_000002.12:g.130341021C>T, NC_000002.11:g.131098594C>A, NC_000002.11:g.131098594C>T, NG_046779.1:g.6790G>T, NG_046779.1:g.6790G>A, NM_032357.4:c.317G>T, NM_032357.4:c.317G>A, NM_032357.3:c.317G>T, NM_032357.3:c.317G>A, NM_032357.2:c.317G>T, NM_032357.2:c.317G>A, NR_135548.2:n.356G>T, NR_135548.2:n.356G>A, NR_135548.1:n.575G>T, NR_135548.1:n.575G>A, NM_001321119.2:c.293G>T, NM_001321119.2:c.293G>A, NM_001321119.1:c.173G>T, NM_001321119.1:c.173G>A, NR_104471.1:n.754G>T, NR_104471.1:n.754G>A, NM_001321118.1:c.302G>T, NM_001321118.1:c.302G>A, NP_115733.2:p.Gly106Val, NP_115733.2:p.Gly106Asp, NP_001308048.2:p.Gly98Val, NP_001308048.2:p.Gly98Asp, NP_001308047.1:p.Gly101Val, NP_001308047.1:p.Gly101Asp

Select item 147573991711.

rs1475739917 [Homo sapiens]

Variant type:: DEL
Alleles:: GCCCT>- [Show Flanks]
Chromosome:: 2:130338499 (GRCh38)
2:131096072 (GRCh37)
Canonical SPDI:: NC_000002.12:130338498:GCCCT:
Gene:: CCDC115 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.130338499_130338503del, NC_000002.11:g.131096072_131096076del, NG_046779.1:g.9308_9312del, NM_032357.4:c.*617_*621del, NM_032357.3:c.*617_*621del, NM_032357.2:c.*617_*621del, NR_135548.2:n.1402_1406del, NR_135548.1:n.1621_1625del, NM_001321119.2:c.*617_*621del, NM_001321119.1:c.*617_*621del, NR_104471.1:n.1800_1804del, NM_001321118.1:c.*617_*621del

Select item 147137081612.

rs1471370816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130342651 (GRCh38)
2:131100224 (GRCh37)
Canonical SPDI:: NC_000002.12:130342650:G:A
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_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_000002.12:g.130342651G>A, NC_000002.11:g.131100224G>A, NG_046779.1:g.5160C>T, NR_104471.1:n.31C>T, NM_001321118.1:c.-422C>T, NM_033416.2:c.-282G>A, NM_001320309.1:c.-687G>A, NM_001320307.1:c.-487G>A, NM_001320310.1:c.-564G>A, NM_001320311.1:c.-564G>A, NM_001320306.1:c.-460G>A, NM_001320304.1:c.-282G>A, NM_001320305.1:c.-282G>A

Select item 146930125613.

rs1469301256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130339183 (GRCh38)
2:131096756 (GRCh37)
Canonical SPDI:: NC_000002.12:130339182:C:T
Gene:: CCDC115 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130339183C>T, NC_000002.11:g.131096756C>T, NG_046779.1:g.8628G>A, NM_032357.4:c.480G>A, NM_032357.3:c.480G>A, NM_032357.2:c.480G>A, NR_135548.2:n.722G>A, NR_135548.1:n.941G>A, NM_001321119.2:c.456G>A, NM_001321119.1:c.336G>A, NR_104471.1:n.1120G>A, NM_001321118.1:c.465G>A, NP_115733.2:p.Trp160Ter, NP_001308048.2:p.Trp152Ter, NP_001308047.1:p.Trp155Ter

Select item 146855225414.

rs1468552254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130338123 (GRCh38)
2:131095696 (GRCh37)
Canonical SPDI:: NC_000002.12:130338122:C:T
Gene:: CCDC115 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.130338123C>T, NC_000002.11:g.131095696C>T, NG_046779.1:g.9688G>A, NM_032357.4:c.*997G>A, NM_032357.3:c.*997G>A, NR_135548.2:n.1782G>A, NR_135548.1:n.2001G>A, NM_001321119.2:c.*997G>A, NM_001321119.1:c.*997G>A, NR_104471.1:n.2180G>A, NM_001321118.1:c.*997G>A

Select item 146632129515.

rs1466321295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130342199 (GRCh38)
2:131099772 (GRCh37)
Canonical SPDI:: NC_000002.12:130342198:C:T
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000002.12:g.130342199C>T, NC_000002.11:g.131099772C>T, NG_046779.1:g.5612G>A, NR_104471.1:n.483G>A, NM_001321118.1:c.31G>A, NM_032357.3:c.-74G>A, NM_032357.2:c.-74G>A, NR_135548.1:n.185G>A, NP_001308047.1:p.Val11Met

Select item 146530877816.

rs1465308778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130339166 (GRCh38)
2:131096739 (GRCh37)
Canonical SPDI:: NC_000002.12:130339165:C:T
Gene:: CCDC115 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.130339166C>T, NC_000002.11:g.131096739C>T, NG_046779.1:g.8645G>A, NM_032357.4:c.497G>A, NM_032357.3:c.497G>A, NM_032357.2:c.497G>A, NR_135548.2:n.739G>A, NR_135548.1:n.958G>A, NM_001321119.2:c.473G>A, NM_001321119.1:c.353G>A, NR_104471.1:n.1137G>A, NM_001321118.1:c.482G>A, NP_115733.2:p.Arg166Gln, NP_001308048.2:p.Arg158Gln, NP_001308047.1:p.Arg161Gln

Select item 146330218017.

rs1463302180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:130341733 (GRCh38)
2:131099306 (GRCh37)
Canonical SPDI:: NC_000002.12:130341732:G:C
Gene:: CCDC115 (Varview), IMP4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130341733G>C, NC_000002.11:g.131099306G>C, NG_046779.1:g.6078C>G, NM_032357.4:c.232C>G, NM_032357.3:c.232C>G, NM_032357.2:c.232C>G, NR_135548.2:n.271C>G, NR_135548.1:n.490C>G, NM_001321119.2:c.208C>G, NM_001321119.1:c.88C>G, NR_104471.1:n.669C>G, NM_001321118.1:c.217C>G, NP_115733.2:p.Leu78Val, NP_001308048.2:p.Leu70Val, NP_001308047.1:p.Leu73Val

Select item 146310843318.

rs1463108433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130338046 (GRCh38)
2:131095619 (GRCh37)
Canonical SPDI:: NC_000002.12:130338045:C:T
Gene:: CCDC115 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.130338046C>T, NC_000002.11:g.131095619C>T, NG_046779.1:g.9765G>A, NM_032357.4:c.*1074G>A, NM_032357.3:c.*1074G>A, NR_135548.2:n.1859G>A, NR_135548.1:n.2078G>A, NM_001321119.2:c.*1074G>A, NM_001321119.1:c.*1074G>A, NR_104471.1:n.2257G>A, NM_001321118.1:c.*1074G>A

Select item 146247860919.

rs1462478609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130338577 (GRCh38)
2:131096150 (GRCh37)
Canonical SPDI:: NC_000002.12:130338576:C:T
Gene:: CCDC115 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.130338577C>T, NC_000002.11:g.131096150C>T, NG_046779.1:g.9234G>A, NM_032357.4:c.*543G>A, NM_032357.3:c.*543G>A, NM_032357.2:c.*543G>A, NR_135548.2:n.1328G>A, NR_135548.1:n.1547G>A, NM_001321119.2:c.*543G>A, NM_001321119.1:c.*543G>A, NR_104471.1:n.1726G>A, NM_001321118.1:c.*543G>A

Select item 146227699620.

rs1462276996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130339161 (GRCh38)
2:131096734 (GRCh37)
Canonical SPDI:: NC_000002.12:130339160:G:A
Gene:: CCDC115 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.130339161G>A, NC_000002.11:g.131096734G>A, NG_046779.1:g.8650C>T, NM_032357.4:c.502C>T, NM_032357.3:c.502C>T, NM_032357.2:c.502C>T, NR_135548.2:n.744C>T, NR_135548.1:n.963C>T, NM_001321119.2:c.478C>T, NM_001321119.1:c.358C>T, NR_104471.1:n.1142C>T, NM_001321118.1:c.487C>T, NP_115733.2:p.Leu168Phe, NP_001308048.2:p.Leu160Phe, NP_001308047.1:p.Leu163Phe

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