SNP Links for Nucleotide (Select 214010178) - SNP

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Links from Nucleotide

Items: 1 to 20 of 1449

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Select item 14901790911.

rs1490179091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:22826640 (GRCh38)
15:23046428 (GRCh37)
Canonical SPDI:: NC_000015.10:22826639:A:G
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.22826640A>G, NC_000015.9:g.23046428T>C, NG_009056.1:g.45416A>G, NM_144599.5:c.*2401A>G, NM_144599.4:c.*2401A>G, NM_001142275.1:c.*2401A>G, NW_021160017.1:g.3720687A>G

Select item 14900156002.

rs1490015600 [Homo sapiens]

Variant type:: DEL
Alleles:: GAGTA>- [Show Flanks]
Chromosome:: 15:22826147 (GRCh38)
15:23046917 (GRCh37)
Canonical SPDI:: NC_000015.10:22826146:GAGTA:
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.22826147_22826151del, NC_000015.9:g.23046917_23046921del, NG_009056.1:g.44923_44927del, NM_144599.5:c.*1908_*1912del, NM_144599.4:c.*1908_*1912del, NM_001142275.1:c.*1908_*1912del, NW_021160017.1:g.3720192_3720196del

Select item 14897819783.

rs1489781978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:22827104 (GRCh38)
15:23045964 (GRCh37)
Canonical SPDI:: NC_000015.10:22827103:C:G
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.22827104C>G, NC_000015.9:g.23045964G>C, NG_009056.1:g.45880C>G, NM_144599.5:c.*2865C>G, NM_144599.4:c.*2865C>G, NM_001142275.1:c.*2865C>G, NW_021160017.1:g.3721151C>G

Select item 14893826614.

rs1489382661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:22823997 (GRCh38)
15:23049071 (GRCh37)
Canonical SPDI:: NC_000015.10:22823996:A:C
Gene:: NIPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: C=0.00007/1 (TOMMO)
HGVS:: NC_000015.10:g.22823997A>C, NC_000015.9:g.23049071T>G, NG_009056.1:g.42773A>C, NM_144599.5:c.748A>C, NM_144599.4:c.748A>C, NM_001142275.1:c.523A>C, NW_021160017.1:g.3718041A>C, NP_653200.2:p.Lys250Gln, NP_001135747.1:p.Lys175Gln

Select item 14882718515.

rs1488271851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:22825152 (GRCh38)
15:23047916 (GRCh37)
Canonical SPDI:: NC_000015.10:22825151:A:G
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.22825152A>G, NC_000015.9:g.23047916T>C, NG_009056.1:g.43928A>G, NM_144599.5:c.*913A>G, NM_144599.4:c.*913A>G, NM_001142275.1:c.*913A>G, NW_021160017.1:g.3719196A>G

Select item 14873801976.

rs1487380197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:22829429 (GRCh38)
15:23043639 (GRCh37)
Canonical SPDI:: NC_000015.10:22829428:G:T
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.22829429G>T, NC_000015.9:g.23043639C>A, NG_009056.1:g.48205G>T, NM_144599.5:c.*5190G>T, NM_144599.4:c.*5190G>T, NM_001142275.1:c.*5190G>T, NW_021160017.1:g.3723476G>T

Select item 14869333767.

rs1486933376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:22827966 (GRCh38)
15:23045102 (GRCh37)
Canonical SPDI:: NC_000015.10:22827965:C:A,NC_000015.10:22827965:C:T
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.22827966C>A, NC_000015.10:g.22827966C>T, NC_000015.9:g.23045102G>T, NC_000015.9:g.23045102G>A, NG_009056.1:g.46742C>A, NG_009056.1:g.46742C>T, NM_144599.5:c.*3727C>A, NM_144599.5:c.*3727C>T, NM_144599.4:c.*3727C>A, NM_144599.4:c.*3727C>T, NM_001142275.1:c.*3727C>A, NM_001142275.1:c.*3727C>T, NW_021160017.1:g.3722013C>A, NW_021160017.1:g.3722013C>T

Select item 14866522498.

rs1486652249 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:22824602 (GRCh38)
15:23048461 (GRCh37)
Canonical SPDI:: NC_000015.10:22824602:TTTTT:TTTTTT
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.22824607dup, NC_000015.9:g.23048465dup, NG_009056.1:g.43383dup, NM_144599.5:c.*368dup, NM_144599.4:c.*368dup, NM_001142275.1:c.*368dup, NW_021160017.1:g.3718651dup

Select item 14860726429.

rs1486072642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:22825048 (GRCh38)
15:23048020 (GRCh37)
Canonical SPDI:: NC_000015.10:22825047:C:T
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.22825048C>T, NC_000015.9:g.23048020G>A, NG_009056.1:g.43824C>T, NM_144599.5:c.*809C>T, NM_144599.4:c.*809C>T, NM_001142275.1:c.*809C>T, NW_021160017.1:g.3719092C>T

Select item 148540147810.

rs1485401478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:22828448 (GRCh38)
15:23044620 (GRCh37)
Canonical SPDI:: NC_000015.10:22828447:T:G
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.22828448T>G, NC_000015.9:g.23044620A>C, NG_009056.1:g.47224T>G, NM_144599.5:c.*4209T>G, NM_144599.4:c.*4209T>G, NM_001142275.1:c.*4209T>G, NW_021160017.1:g.3722495T>G

Select item 148508978511.

rs1485089785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:22826225 (GRCh38)
15:23046843 (GRCh37)
Canonical SPDI:: NC_000015.10:22826224:G:A
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.22826225G>A, NC_000015.9:g.23046843C>T, NG_009056.1:g.45001G>A, NM_144599.5:c.*1986G>A, NM_144599.4:c.*1986G>A, NM_001142275.1:c.*1986G>A, NW_021160017.1:g.3720270G>A

Select item 148499359312.

rs1484993593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:22826872 (GRCh38)
15:23046196 (GRCh37)
Canonical SPDI:: NC_000015.10:22826871:C:T
Gene:: NIPA1 (Varview)
Functional Consequence:: 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_000015.10:g.22826872C>T, NC_000015.9:g.23046196G>A, NG_009056.1:g.45648C>T, NM_144599.5:c.*2633C>T, NM_144599.4:c.*2633C>T, NM_001142275.1:c.*2633C>T, NW_021160017.1:g.3720919C>T

Select item 148473991513.

rs1484739915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:22828974 (GRCh38)
15:23044094 (GRCh37)
Canonical SPDI:: NC_000015.10:22828973:T:G
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.22828974T>G, NC_000015.9:g.23044094A>C, NG_009056.1:g.47750T>G, NM_144599.5:c.*4735T>G, NM_144599.4:c.*4735T>G, NM_001142275.1:c.*4735T>G, NW_021160017.1:g.3723021T>G

Select item 148313475314.

rs1483134753 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148297402815.

rs1482974028 has merged into rs957994530 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC,CCCC [Show Flanks]
Chromosome:: 15:22824782 (GRCh38)
15:23048282 (GRCh37)
Canonical SPDI:: NC_000015.10:22824781:CCCCC:CCCC,NC_000015.10:22824781:CCCCC:CCCCCC,NC_000015.10:22824781:CCCCC:CCCCCCC,NC_000015.10:22824781:CCCCC:CCCCCCCC
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0.00007/1 (ALFA)
CCC=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.22824786del, NC_000015.10:g.22824786dup, NC_000015.10:g.22824785_22824786dup, NC_000015.10:g.22824784_22824786dup, NC_000015.9:g.23048286del, NC_000015.9:g.23048286dup, NC_000015.9:g.23048285_23048286dup, NC_000015.9:g.23048284_23048286dup, NG_009056.1:g.43562del, NG_009056.1:g.43562dup, NG_009056.1:g.43561_43562dup, NG_009056.1:g.43560_43562dup, NM_144599.5:c.*547del, NM_144599.5:c.*547dup, NM_144599.5:c.*546_*547dup, NM_144599.5:c.*545_*547dup, NM_144599.4:c.*547del, NM_144599.4:c.*547dup, NM_144599.4:c.*546_*547dup, NM_144599.4:c.*545_*547dup, NM_001142275.1:c.*547del, NM_001142275.1:c.*547dup, NM_001142275.1:c.*546_*547dup, NM_001142275.1:c.*545_*547dup, NW_021160017.1:g.3718830del, NW_021160017.1:g.3718830dup, NW_021160017.1:g.3718829_3718830dup, NW_021160017.1:g.3718828_3718830dup

Select item 148286690516.

rs1482866905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:22828667 (GRCh38)
15:23044401 (GRCh37)
Canonical SPDI:: NC_000015.10:22828666:A:G
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.22828667A>G, NC_000015.9:g.23044401T>C, NG_009056.1:g.47443A>G, NM_144599.5:c.*4428A>G, NM_144599.4:c.*4428A>G, NM_001142275.1:c.*4428A>G, NW_021160017.1:g.3722714A>G

Select item 148275087517.

rs1482750875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:22828889 (GRCh38)
15:23044179 (GRCh37)
Canonical SPDI:: NC_000015.10:22828888:G:T
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000015.10:g.22828889G>T, NC_000015.9:g.23044179C>A, NG_009056.1:g.47665G>T, NM_144599.5:c.*4650G>T, NM_144599.4:c.*4650G>T, NM_001142275.1:c.*4650G>T, NW_021160017.1:g.3722936G>T

Select item 148173773218.

rs1481737732 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:22828427 (GRCh38)
15:23044638 (GRCh37)
Canonical SPDI:: NC_000015.10:22828427:TTT:TTTT
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.22828430dup, NC_000015.9:g.23044640dup, NG_009056.1:g.47206dup, NM_144599.5:c.*4191dup, NM_144599.4:c.*4191dup, NM_001142275.1:c.*4191dup, NW_021160017.1:g.3722477dup

Select item 148125540519.

rs1481255405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:22828184 (GRCh38)
15:23044884 (GRCh37)
Canonical SPDI:: NC_000015.10:22828183:G:A
Gene:: NIPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.22828184G>A, NC_000015.9:g.23044884C>T, NG_009056.1:g.46960G>A, NM_144599.5:c.*3945G>A, NM_144599.4:c.*3945G>A, NM_001142275.1:c.*3945G>A, NW_021160017.1:g.3722231G>A

Select item 148100147420.

rs1481001474 has merged into rs1470039724 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:22823729 (GRCh38)
15:23049336 (GRCh37)
Canonical SPDI:: NC_000015.10:22823729:TTT:TTTT
Gene:: NIPA1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.22823732dup, NC_000015.9:g.23049338dup, NG_009056.1:g.42508dup, NM_144599.5:c.483dup, NM_144599.4:c.483dup, NM_001142275.1:c.258dup, NW_021160017.1:g.3717776dup, NP_653200.2:p.Val162fs, NP_001135747.1:p.Val87fs

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