SNP Links for Gene (Select 9221) - SNP

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Links from Gene

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Select item 14911888121.

rs1491188812 [Homo sapiens]

Select item 14909743972.

rs1490974397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:102154818 (GRCh38)
10:103914575 (GRCh37)
Canonical SPDI:: NC_000010.11:102154817:T:A,NC_000010.11:102154817:T:C
Gene:: NOLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.102154818T>A, NC_000010.11:g.102154818T>C, NC_000010.10:g.103914575T>A, NC_000010.10:g.103914575T>C

Select item 14909295593.

rs1490929559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:102162668 (GRCh38)
10:103922425 (GRCh37)
Canonical SPDI:: NC_000010.11:102162667:A:T
Gene:: NOLC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102162668A>T, NC_000010.10:g.103922425A>T, NM_004741.5:c.*399A>T, NM_004741.4:c.*399A>T, NM_004741.3:c.*399A>T, XM_005270273.3:c.*399A>T, XM_005270273.2:c.*399A>T, XM_005270273.1:c.*399A>T, NM_001284388.2:c.*399A>T, NM_001284388.1:c.*399A>T, NM_001284389.2:c.*399A>T, NM_001284389.1:c.*399A>T

Select item 14907016634.

rs1490701663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:102160479 (GRCh38)
10:103920236 (GRCh37)
Canonical SPDI:: NC_000010.11:102160478:C:G
Gene:: NOLC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102160479C>G, NC_000010.10:g.103920236C>G, NM_004741.5:c.1127C>G, NM_004741.4:c.1127C>G, NM_004741.3:c.1127C>G, XM_005270273.3:c.1160C>G, XM_005270273.2:c.1160C>G, XM_005270273.1:c.1160C>G, NM_001284388.2:c.1157C>G, NM_001284388.1:c.1157C>G, NM_001284389.2:c.1130C>G, NM_001284389.1:c.1130C>G, NP_004732.2:p.Ala376Gly, XP_005270330.1:p.Ala387Gly, NP_001271317.1:p.Ala386Gly, NP_001271318.1:p.Ala377Gly

Select item 14905609975.

rs1490560997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:102159516 (GRCh38)
10:103919273 (GRCh37)
Canonical SPDI:: NC_000010.11:102159515:T:A
Gene:: NOLC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102159516T>A, NC_000010.10:g.103919273T>A, NM_004741.5:c.807T>A, NM_004741.4:c.807T>A, NM_004741.3:c.807T>A, XM_005270273.3:c.840T>A, XM_005270273.2:c.840T>A, XM_005270273.1:c.840T>A, NM_001284388.2:c.837T>A, NM_001284388.1:c.837T>A, NM_001284389.2:c.810T>A, NM_001284389.1:c.810T>A, NP_004732.2:p.Asp269Glu, XP_005270330.1:p.Asp280Glu, NP_001271317.1:p.Asp279Glu, NP_001271318.1:p.Asp270Glu

Select item 14905258226.

rs1490525822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:102160559 (GRCh38)
10:103920316 (GRCh37)
Canonical SPDI:: NC_000010.11:102160558:G:C
Gene:: NOLC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.102160559G>C, NC_000010.10:g.103920316G>C, NM_004741.5:c.1207G>C, NM_004741.4:c.1207G>C, NM_004741.3:c.1207G>C, XM_005270273.3:c.1240G>C, XM_005270273.2:c.1240G>C, XM_005270273.1:c.1240G>C, NM_001284388.2:c.1237G>C, NM_001284388.1:c.1237G>C, NM_001284389.2:c.1210G>C, NM_001284389.1:c.1210G>C, NP_004732.2:p.Ala403Pro, XP_005270330.1:p.Ala414Pro, NP_001271317.1:p.Ala413Pro, NP_001271318.1:p.Ala404Pro

Select item 14904547257.

rs1490454725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:102161811 (GRCh38)
10:103921568 (GRCh37)
Canonical SPDI:: NC_000010.11:102161810:T:A,NC_000010.11:102161810:T:C
Gene:: NOLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.102161811T>A, NC_000010.11:g.102161811T>C, NC_000010.10:g.103921568T>A, NC_000010.10:g.103921568T>C

Select item 14904240018.

rs1490424001 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAT>- [Show Flanks]
Chromosome:: 10:102159092 (GRCh38)
10:103918849 (GRCh37)
Canonical SPDI:: NC_000010.11:102159091:AAAT:
Gene:: NOLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00013/2 (ALFA)
HGVS:: NC_000010.11:g.102159092_102159095del, NC_000010.10:g.103918849_103918852del

Select item 14902856849.

rs1490285684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:102152567 (GRCh38)
10:103912324 (GRCh37)
Canonical SPDI:: NC_000010.11:102152566:T:C,NC_000010.11:102152566:T:G
Gene:: NOLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.102152567T>C, NC_000010.11:g.102152567T>G, NC_000010.10:g.103912324T>C, NC_000010.10:g.103912324T>G