SNP Links for Nucleotide (Select 336455122) - SNP

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Links from Nucleotide

Items: 1 to 20 of 5583

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Select item 14914310671.

rs1491431067 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TATACA,TATACACA,TATATACA,TATATACACA,TATATATACA,TATATATATACA,TATATATATATACA,TATATATATATATACA,TATATATATATATATACA,TATATATATATATATATACA,TATATATATATATATATATACA [Show Flanks]
Chromosome:: 15:89664338 (GRCh38)
15:90207570 (GRCh37)
Canonical SPDI:: NC_000015.10:89664338:A:ATACA,NC_000015.10:89664338:A:ATATACA,NC_000015.10:89664338:A:ATATACACA,NC_000015.10:89664338:A:ATATATACA,NC_000015.10:89664338:A:ATATATACACA,NC_000015.10:89664338:A:ATATATATACA,NC_000015.10:89664338:A:ATATATATATACA,NC_000015.10:89664338:A:ATATATATATATACA,NC_000015.10:89664338:A:ATATATATATATATACA,NC_000015.10:89664338:A:ATATATATATATATATACA,NC_000015.10:89664338:A:ATATATATATATATATATACA,NC_000015.10:89664338:A:ATATATATATATATATATATACA
Gene:: PLIN1 (Varview), KIF7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATACA=0./0 (ALFA)
ATATATATATATATATATAC=0.000004/1 (TOPMED)
ATATATATATAC=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.89664339_89664340insTACA, NC_000015.10:g.89664339AT[2]ACA[1], NC_000015.10:g.89664339AT[2]AC[2]A[1], NC_000015.10:g.89664339AT[3]ACA[1], NC_000015.10:g.89664339AT[3]AC[2]A[1], NC_000015.10:g.89664339AT[4]ACA[1], NC_000015.10:g.89664339AT[5]ACA[1], NC_000015.10:g.89664339AT[6]ACA[1], NC_000015.10:g.89664339AT[7]ACA[1], NC_000015.10:g.89664339AT[8]ACA[1], NC_000015.10:g.89664339AT[9]ACA[1], NC_000015.10:g.89664339AT[10]ACA[1], NC_000015.9:g.90207570_90207571insTACA, NC_000015.9:g.90207570AT[2]ACA[1], NC_000015.9:g.90207570AT[2]AC[2]A[1], NC_000015.9:g.90207570AT[3]ACA[1], NC_000015.9:g.90207570AT[3]AC[2]A[1], NC_000015.9:g.90207570AT[4]ACA[1], NC_000015.9:g.90207570AT[5]ACA[1], NC_000015.9:g.90207570AT[6]ACA[1], NC_000015.9:g.90207570AT[7]ACA[1], NC_000015.9:g.90207570AT[8]ACA[1], NC_000015.9:g.90207570AT[9]ACA[1], NC_000015.9:g.90207570AT[10]ACA[1], NG_029172.1:g.20079_20080insGTAT, NG_029172.1:g.20079_20080insGTATAT, NG_029172.1:g.20079TG[2]TA[2]T[1], NG_029172.1:g.20079_20080insGTATATAT, NG_029172.1:g.20079TG[2]TA[3]T[1], NG_029172.1:g.20079_20080insGTATATATAT, NG_029172.1:g.20079_20080insGTATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATATATATAT, NG_029172.1:g.20079_20080insGTATATATATATATATATATAT

Select item 14913673722.

rs1491367372 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:89663649 (GRCh38)
15:90206881 (GRCh37)
Canonical SPDI:: NC_000015.10:89663649::C
Gene:: KIF7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00043/26 (GnomAD)
C=0.00108/18 (TOMMO)
HGVS:: NC_000015.10:g.89663649_89663650insC, NC_000015.9:g.90206880_90206881insC, NG_029172.1:g.20768_20769insG

Select item 14912254753.

rs1491225475 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:89663650 (GRCh38)
15:90206881 (GRCh37)
Canonical SPDI:: NC_000015.10:89663648:GTG:G
Gene:: KIF7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00003/2 (GnomAD)
HGVS:: NC_000015.10:g.89663650_89663651del, NC_000015.9:g.90206881_90206882del, NG_029172.1:g.20768_20769del

Select item 14909871924.

rs1490987192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89665948 (GRCh38)
15:90209179 (GRCh37)
Canonical SPDI:: NC_000015.10:89665947:G:A
Gene:: PLIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.89665948G>A, NC_000015.9:g.90209179G>A, NG_029172.1:g.18470C>T

Select item 14907284215.

rs1490728421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89663658 (GRCh38)
15:90206889 (GRCh37)
Canonical SPDI:: NC_000015.10:89663657:C:T
Gene:: KIF7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0199/236 (ALFA)
T=0.00006/3 (GnomAD)
T=0.00011/3 (TOMMO)
T=0.02261/63 (KOREAN)
HGVS:: NC_000015.10:g.89663658C>T, NC_000015.9:g.90206889C>T, NG_029172.1:g.20760G>A

Select item 14905996216.

rs1490599621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89680524 (GRCh38)
15:90223755 (GRCh37)
Canonical SPDI:: NC_000015.10:89680523:A:G
Gene:: PLIN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000425/7 (TOMMO)
HGVS:: NC_000015.10:g.89680524A>G, NC_000015.9:g.90223755A>G, NG_029172.1:g.3894T>C

Select item 14904155587.

rs1490415558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89680629 (GRCh38)
15:90223860 (GRCh37)
Canonical SPDI:: NC_000015.10:89680628:G:A
Gene:: PLIN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.89680629G>A, NC_000015.9:g.90223860G>A, NG_029172.1:g.3789C>T

Select item 14904002898.

rs1490400289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89681829 (GRCh38)
15:90225060 (GRCh37)
Canonical SPDI:: NC_000015.10:89681828:C:T
Gene:: PEX11A (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.89681829C>T, NC_000015.9:g.90225060C>T, NG_029172.1:g.2589G>A, NM_003847.3:c.*1548G>A, NM_003847.2:c.*1548G>A, NM_001271572.2:c.*1548G>A, NM_001271572.1:c.*1548G>A, NM_001271573.2:c.*1548G>A, NM_001271573.1:c.*1548G>A

Select item 14902855859.

rs1490285585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:89678141 (GRCh38)
15:90221372 (GRCh37)
Canonical SPDI:: NC_000015.10:89678140:C:A
Gene:: PLIN1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.89678141C>A, NC_000015.9:g.90221372C>A, NG_029172.1:g.6277G>T

Select item 149019771910.

rs1490197719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89673801 (GRCh38)
15:90217032 (GRCh37)
Canonical SPDI:: NC_000015.10:89673800:C:T
Gene:: PLIN1 (Varview)
Functional Consequence:: intron_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_000015.10:g.89673801C>T, NC_000015.9:g.90217032C>T, NG_029172.1:g.10617G>A

Select item 148992404511.

rs1489924045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89681138 (GRCh38)
15:90224369 (GRCh37)
Canonical SPDI:: NC_000015.10:89681137:A:G
Gene:: PLIN1 (Varview), PEX11A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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.89681138A>G, NC_000015.9:g.90224369A>G, NG_029172.1:g.3280T>C

Select item 148988418512.

rs1489884185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89667096 (GRCh38)
15:90210327 (GRCh37)
Canonical SPDI:: NC_000015.10:89667095:A:G
Gene:: PLIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89667096A>G, NC_000015.9:g.90210327A>G, NG_029172.1:g.17322T>C, NM_002666.5:c.1049T>C, NM_002666.4:c.1049T>C, NM_001145311.2:c.1049T>C, NM_001145311.1:c.1049T>C, XM_005254934.5:c.1049T>C, XM_005254934.4:c.1049T>C, XM_005254934.3:c.1049T>C, XM_005254934.2:c.1049T>C, XM_005254934.1:c.1049T>C, NP_002657.3:p.Val350Ala, NP_001138783.1:p.Val350Ala, XP_005254991.1:p.Val350Ala

Select item 148985341913.

rs1489853419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89665738 (GRCh38)
15:90208969 (GRCh37)
Canonical SPDI:: NC_000015.10:89665737:C:T
Gene:: PLIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.89665738C>T, NC_000015.9:g.90208969C>T, NG_029172.1:g.18680G>A, NM_002666.5:c.1414G>A, NM_002666.4:c.1414G>A, NM_001145311.2:c.1414G>A, NM_001145311.1:c.1414G>A, XM_005254934.5:c.1414G>A, XM_005254934.4:c.1414G>A, XM_005254934.3:c.1414G>A, XM_005254934.2:c.1414G>A, XM_005254934.1:c.1414G>A, NP_002657.3:p.Asp472Asn, NP_001138783.1:p.Asp472Asn, XP_005254991.1:p.Asp472Asn

Select item 148979385014.

rs1489793850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89679197 (GRCh38)
15:90222428 (GRCh37)
Canonical SPDI:: NC_000015.10:89679196:G:A
Gene:: PLIN1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.89679197G>A, NC_000015.9:g.90222428G>A, NG_029172.1:g.5221C>T

Select item 148971045615.

rs1489710456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89666847 (GRCh38)
15:90210078 (GRCh37)
Canonical SPDI:: NC_000015.10:89666846:G:A
Gene:: PLIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000318/5 (TOMMO)
HGVS:: NC_000015.10:g.89666847G>A, NC_000015.9:g.90210078G>A, NG_029172.1:g.17571C>T

Select item 148945380116.

rs1489453801 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:89670386 (GRCh38)
15:90213617 (GRCh37)
Canonical SPDI:: NC_000015.10:89670385:CC:C
Gene:: PLIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.89670387del, NC_000015.9:g.90213618del, NG_029172.1:g.14032del

Select item 148944281217.

rs1489442812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89683058 (GRCh38)
15:90226289 (GRCh37)
Canonical SPDI:: NC_000015.10:89683057:A:G
Gene:: PEX11A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.89683058A>G, NC_000015.9:g.90226289A>G, NG_029172.1:g.1360T>C, NM_003847.3:c.*319T>C, NM_003847.2:c.*319T>C, NM_001271572.2:c.*319T>C, NM_001271572.1:c.*319T>C, NM_001271573.2:c.*319T>C, NM_001271573.1:c.*319T>C

Select item 148931413318.

rs1489314133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89667800 (GRCh38)
15:90211031 (GRCh37)
Canonical SPDI:: NC_000015.10:89667799:G:A
Gene:: PLIN1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.89667800G>A, NC_000015.9:g.90211031G>A, NG_029172.1:g.16618C>T

Select item 148928908719.

rs1489289087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:89672018 (GRCh38)
15:90215249 (GRCh37)
Canonical SPDI:: NC_000015.10:89672017:T:A,NC_000015.10:89672017:T:C
Gene:: PLIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.89672018T>A, NC_000015.10:g.89672018T>C, NC_000015.9:g.90215249T>A, NC_000015.9:g.90215249T>C, NG_029172.1:g.12400A>T, NG_029172.1:g.12400A>G

Select item 148912403220.

rs1489124032 [Homo sapiens]

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

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