SNP Links for Nucleotide (Select 237874233) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32203059 (GRCh38)
1:32668660 (GRCh37)
Canonical SPDI:: NC_000001.11:32203058:G:A
Gene:: CCDC28B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000072/10 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.32203059G>A, NC_000001.10:g.32668660G>A, NG_012178.1:g.7459G>A

Select item 14897573878.

rs1489757387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32202291 (GRCh38)
1:32667892 (GRCh37)
Canonical SPDI:: NC_000001.11:32202290:G:A
Gene:: CCDC28B (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_000001.11:g.32202291G>A, NC_000001.10:g.32667892G>A, NG_012178.1:g.6691G>A

Select item 14896021929.

rs1489602192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:32206849 (GRCh38)
1:32672450 (GRCh37)
Canonical SPDI:: NC_000001.11:32206848:A:C
Gene:: IQCC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.32206849A>C, NC_000001.10:g.32672450A>C, NG_012178.1:g.11249A>C

Select item 148927994210.

rs1489279942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32196507 (GRCh38)
1:32662108 (GRCh37)
Canonical SPDI:: NC_000001.11:32196506:T:C
Gene:: CCDC28B (Varview), TXLNA (Varview)
Functional Consequence:: 3_prime_UTR_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000177/3 (TOMMO)
HGVS:: NC_000001.11:g.32196507T>C, NC_000001.10:g.32662108T>C, NG_012178.1:g.907T>C, NM_175852.4:c.*1312T>C, NM_175852.3:c.*1312T>C, XM_011540932.3:c.*1312T>C, XM_011540932.2:c.*1312T>C, XM_011540932.1:c.*1312T>C, XM_017000561.2:c.*1312T>C, XM_017000561.1:c.*1312T>C, XM_017000563.2:c.*1312T>C, XM_017000563.1:c.*1312T>C, XM_047430215.1:c.-5429T>C, XM_047430217.1:c.-5429T>C, NM_001376857.1:c.*1312T>C, NM_001376858.1:c.*1312T>C, NM_001376859.1:c.*1312T>C

Select item 148889748011.

rs1488897480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32200755 (GRCh38)
1:32666356 (GRCh37)
Canonical SPDI:: NC_000001.11:32200754:G:A
Gene:: CCDC28B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.32200755G>A, NC_000001.10:g.32666356G>A, NG_012178.1:g.5155G>A, XM_047430215.1:c.-1181G>A, XM_047430217.1:c.-1181G>A

Select item 148866434912.

rs1488664349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32199536 (GRCh38)
1:32665137 (GRCh37)
Canonical SPDI:: NC_000001.11:32199535:G:A
Gene:: CCDC28B (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.32199536G>A, NC_000001.10:g.32665137G>A, NG_012178.1:g.3936G>A, XM_047430215.1:c.-2400G>A, XM_047430217.1:c.-2400G>A

Select item 148851740713.

rs1488517407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32206178 (GRCh38)
1:32671779 (GRCh37)
Canonical SPDI:: NC_000001.11:32206177:C:T
Gene:: IQCC (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32206178C>T, NC_000001.10:g.32671779C>T, NG_012178.1:g.10578C>T, NM_018134.3:c.67C>T, NM_018134.2:c.67C>T, NM_001160042.2:c.307C>T, NM_001160042.1:c.307C>T, NP_060604.2:p.Arg23Ter, NP_001153514.1:p.Arg103Ter

Select item 148847200614.

rs1488472006 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:32203125 (GRCh38)
1:32668726 (GRCh37)
Canonical SPDI:: NC_000001.11:32203122:CTCT:CT
Gene:: CCDC28B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32203123CT[1], NC_000001.10:g.32668724CT[1], NG_012178.1:g.7523CT[1]

Select item 148840117815.

rs1488401178 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32204026 (GRCh38)
1:32669627 (GRCh37)
Canonical SPDI:: NC_000001.11:32204025:T:C
Gene:: IQCC (Varview), CCDC28B (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_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.32204026T>C, NC_000001.10:g.32669627T>C, NG_012178.1:g.8426T>C, NM_024296.5:c.312T>C, NM_024296.4:c.312T>C, NM_024296.3:c.312T>C, NM_001301011.2:c.312T>C, NM_001301011.1:c.312T>C, XM_011542113.4:c.312T>C, XM_011542113.3:c.312T>C, XM_011542113.2:c.312T>C, XM_011542113.1:c.312T>C, XM_017002308.3:c.312T>C, XM_017002308.2:c.312T>C, XM_017002308.1:c.312T>C, XM_017002307.2:c.312T>C, XM_017002307.1:c.312T>C, XM_047430215.1:c.312T>C, XM_047430217.1:c.312T>C

Select item 148825922316.

rs1488259223 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:32197488 (GRCh38)
1:32663089 (GRCh37)
Canonical SPDI:: NC_000001.11:32197487:C:
Gene:: CCDC28B (Varview), TXLNA (Varview)
Functional Consequence:: 3_prime_UTR_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.32197488del, NC_000001.10:g.32663089del, NG_012178.1:g.1888del, NM_175852.4:c.*2293del, NM_175852.3:c.*2293del, XM_011540932.3:c.*2293del, XM_011540932.2:c.*2293del, XM_011540932.1:c.*2293del, XM_017000561.2:c.*2293del, XM_017000561.1:c.*2293del, XM_017000563.2:c.*2293del, XM_017000563.1:c.*2293del, XM_047430215.1:c.-4448del, XM_047430217.1:c.-4448del, NM_001376857.1:c.*2293del, NM_001376858.1:c.*2293del, NM_001376859.1:c.*2293del

Select item 148825162217.

rs1488251622 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGGCATAT>- [Show Flanks]
Chromosome:: 1:32198451 (GRCh38)
1:32664052 (GRCh37)
Canonical SPDI:: NC_000001.11:32198448:ATGCTGGCATAT:AT
Gene:: CCDC28B (Varview), TXLNA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32198451_32198460del, NC_000001.10:g.32664052_32664061del, NG_012178.1:g.2851_2860del, XM_047430215.1:c.-3485_-3476del, XM_047430217.1:c.-3485_-3476del

Select item 148813803618.

rs1488138036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32200524 (GRCh38)
1:32666125 (GRCh37)
Canonical SPDI:: NC_000001.11:32200523:C:T
Gene:: CCDC28B (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.32200524C>T, NC_000001.10:g.32666125C>T, NG_012178.1:g.4924C>T, NM_024296.4:c.-209C>T, XM_047430215.1:c.-1412C>T, XM_047430217.1:c.-1412C>T, NM_001301011.1:c.-209C>T

Select item 148774086119.

rs1487740861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32205032 (GRCh38)
1:32670633 (GRCh37)
Canonical SPDI:: NC_000001.11:32205031:G:A
Gene:: IQCC (Varview), CCDC28B (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32205032G>A, NC_000001.10:g.32670633G>A, NG_012178.1:g.9432G>A, NM_001301011.2:c.*234G>A, NM_001301011.1:c.*234G>A, XM_011542113.4:c.*234G>A, XM_011542113.3:c.*234G>A, XM_011542113.2:c.*234G>A, XM_047430215.1:c.*234G>A

Select item 148741571820.

rs1487415718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32204499 (GRCh38)
1:32670100 (GRCh37)
Canonical SPDI:: NC_000001.11:32204498:T:C
Gene:: IQCC (Varview), CCDC28B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.32204499T>C, NC_000001.10:g.32670100T>C, NG_012178.1:g.8899T>C

<< First< Prev

Page of 153

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 3056

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity