SNP Links for Gene (Select 728741) - SNP

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Select item 14915176741.

rs1491517674 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TACA
Chromosome:: no mapping
Canonical SPDI:

Select item 14913241382.

rs1491324138 has merged into rs1462242029 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:28361772 (GRCh38)
16:28373093 (GRCh37)
Canonical SPDI:: NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:T,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000016.10:g.28361772_28361787del, NC_000016.10:g.28361772GT[5], NC_000016.10:g.28361772GT[6], NC_000016.10:g.28361772GT[7], NC_000016.10:g.28361772GT[9], NC_000016.10:g.28361772GT[10], NC_000016.10:g.28361772GT[12], NC_000016.9:g.28373093_28373108del, NC_000016.9:g.28373093GT[5], NC_000016.9:g.28373093GT[6], NC_000016.9:g.28373093GT[7], NC_000016.9:g.28373093GT[9], NC_000016.9:g.28373093GT[10], NC_000016.9:g.28373093GT[12]

Select item 14912974883.

rs1491297488 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 16:28361771 (GRCh38)
16:28373093 (GRCh37)
Canonical SPDI:: NC_000016.10:28361771:G:GGG
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GG=0.00007/1 (GnomAD)
HGVS:: NC_000016.10:g.28361772_28361773insGG, NC_000016.9:g.28373093_28373094insGG

Select item 14912099434.

rs1491209943 has merged into rs71225064 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 16:28349576 (GRCh38)
16:28360897 (GRCh37)
Canonical SPDI:: NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:28349547:CACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000016.10:g.28349548CA[14], NC_000016.10:g.28349548CA[15], NC_000016.10:g.28349548CA[16], NC_000016.10:g.28349548CA[17], NC_000016.10:g.28349548CA[18], NC_000016.10:g.28349548CA[19], NC_000016.10:g.28349548CA[20], NC_000016.10:g.28349548CA[21], NC_000016.10:g.28349548CA[22], NC_000016.10:g.28349548CA[23], NC_000016.10:g.28349548CA[25], NC_000016.10:g.28349548CA[26], NC_000016.10:g.28349548CA[29], NC_000016.9:g.28360869CA[14], NC_000016.9:g.28360869CA[15], NC_000016.9:g.28360869CA[16], NC_000016.9:g.28360869CA[17], NC_000016.9:g.28360869CA[18], NC_000016.9:g.28360869CA[19], NC_000016.9:g.28360869CA[20], NC_000016.9:g.28360869CA[21], NC_000016.9:g.28360869CA[22], NC_000016.9:g.28360869CA[23], NC_000016.9:g.28360869CA[25], NC_000016.9:g.28360869CA[26], NC_000016.9:g.28360869CA[29]

Select item 14912067055.

rs1491206705 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCAC [Show Flanks]
Chromosome:: 16:28349547 (GRCh38)
16:28360869 (GRCh37)
Canonical SPDI:: NC_000016.10:28349547:C:CTCAC
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCAC=0.00025/3 (ALFA)
CTCA=0.00028/15 (GnomAD)
HGVS:: NC_000016.10:g.28349548_28349549insTCAC, NC_000016.9:g.28360869_28360870insTCAC

Select item 14911510306.

rs1491151030 has merged into rs1462242029 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:28361772 (GRCh38)
16:28373093 (GRCh37)
Canonical SPDI:: NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:T,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:28361770:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000016.10:g.28361772_28361787del, NC_000016.10:g.28361772GT[5], NC_000016.10:g.28361772GT[6], NC_000016.10:g.28361772GT[7], NC_000016.10:g.28361772GT[9], NC_000016.10:g.28361772GT[10], NC_000016.10:g.28361772GT[12], NC_000016.9:g.28373093_28373108del, NC_000016.9:g.28373093GT[5], NC_000016.9:g.28373093GT[6], NC_000016.9:g.28373093GT[7], NC_000016.9:g.28373093GT[9], NC_000016.9:g.28373093GT[10], NC_000016.9:g.28373093GT[12]

Select item 14909767707.

rs1490976770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28344663 (GRCh38)
16:28355984 (GRCh37)
Canonical SPDI:: NC_000016.10:28344662:T:C
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.28344663T>C, NC_000016.9:g.28355984T>C

Select item 14909492058.

rs1490949205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:28348078 (GRCh38)
16:28359399 (GRCh37)
Canonical SPDI:: NC_000016.10:28348077:C:G,NC_000016.10:28348077:C:T
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.28348078C>G, NC_000016.10:g.28348078C>T, NC_000016.9:g.28359399C>G, NC_000016.9:g.28359399C>T

Select item 14909345759.

rs1490934575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:28346122 (GRCh38)
16:28357443 (GRCh37)
Canonical SPDI:: NC_000016.10:28346121:A:T
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.28346122A>T, NC_000016.9:g.28357443A>T

Select item 149080497810.

rs1490804978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28366228 (GRCh38)
16:28377549 (GRCh37)
Canonical SPDI:: NC_000016.10:28366227:C:T
Gene:: NPIPB6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000016.10:g.28366228C>T, NC_000016.9:g.28377549C>T

Select item 149076936011.

rs1490769360 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>- [Show Flanks]
Chromosome:: 16:28366055 (GRCh38)
16:28377376 (GRCh37)
Canonical SPDI:: NC_000016.10:28366050:CTCCTCC:CTCC
Gene:: NPIPB6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCC=0./0 (ALFA)
HGVS:: NC_000016.10:g.28366052TCC[1], NC_000016.9:g.28377373TCC[1]

Select item 149070500212.

rs1490705002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:28350492 (GRCh38)
16:28361813 (GRCh37)
Canonical SPDI:: NC_000016.10:28350491:A:G
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000011/1 (GnomAD)
HGVS:: NC_000016.10:g.28350492A>G, NC_000016.9:g.28361813A>G

Select item 149065006613.

rs1490650066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28353821 (GRCh38)
16:28365142 (GRCh37)
Canonical SPDI:: NC_000016.10:28353820:C:T
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.28353821C>T, NC_000016.9:g.28365142C>T

Select item 149051778614.

rs1490517786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:28353015 (GRCh38)
16:28364336 (GRCh37)
Canonical SPDI:: NC_000016.10:28353014:C:A
Gene:: NPIPB6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.28353015C>A, NC_000016.9:g.28364336C>A, XM_005255741.5:c.113G>T, XM_005255741.4:c.113G>T, XM_005255741.3:c.113G>T, XM_005255741.2:c.113G>T, XM_005255741.1:c.113G>T, XM_011545931.3:c.74G>T, XM_011545931.2:c.74G>T, XM_011545931.1:c.74G>T, NM_001282524.2:c.167G>T, NM_001282524.1:c.167G>T, XM_047434574.1:c.113G>T, XM_047434575.1:c.167G>T, NM_001395275.1:c.167G>T, XP_005255798.1:p.Gly38Val, XP_011544233.1:p.Gly25Val, NP_001269453.1:p.Gly56Val, XP_047290530.1:p.Gly38Val, XP_047290531.1:p.Gly56Val, NP_001382204.1:p.Gly56Val

Select item 149051602015.

rs1490516020 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 149046052616.

rs1490460526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:28347384 (GRCh38)
16:28358705 (GRCh37)
Canonical SPDI:: NC_000016.10:28347383:T:A
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000016.10:g.28347384T>A, NC_000016.9:g.28358705T>A

Select item 149044584617.

rs1490445846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28344818 (GRCh38)
16:28356139 (GRCh37)
Canonical SPDI:: NC_000016.10:28344817:C:T
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00042/5 (ALFA)
T=0.00364/48 (GnomAD)
HGVS:: NC_000016.10:g.28344818C>T, NC_000016.9:g.28356139C>T

Select item 149041390818.

rs1490413908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:28345878 (GRCh38)
16:28357199 (GRCh37)
Canonical SPDI:: NC_000016.10:28345877:A:G
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.28345878A>G, NC_000016.9:g.28357199A>G

Select item 149040459319.

rs1490404593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28351040 (GRCh38)
16:28362361 (GRCh37)
Canonical SPDI:: NC_000016.10:28351039:T:C
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0018/5 (KOREAN)
HGVS:: NC_000016.10:g.28351040T>C, NC_000016.9:g.28362361T>C

Select item 149020784120.

rs1490207841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:28360574 (GRCh38)
16:28371895 (GRCh37)
Canonical SPDI:: NC_000016.10:28360573:C:A,NC_000016.10:28360573:C:T
Gene:: NPIPB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.28360574C>A, NC_000016.10:g.28360574C>T, NC_000016.9:g.28371895C>A, NC_000016.9:g.28371895C>T

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