SNP Links for Gene (Select 5351) - SNP

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Select item 14915605691.

rs1491560569 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACTC,ACACACACCC,ACACACACTC,ACACACTC [Show Flanks]
Chromosome:: 1:11944453 (GRCh38)
1:12004511 (GRCh37)
Canonical SPDI:: NC_000001.11:11944453:C:CACACACACACTC,NC_000001.11:11944453:C:CACACACACCC,NC_000001.11:11944453:C:CACACACACTC,NC_000001.11:11944453:C:CACACACTC
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACTC=0./0 (ALFA)
CACACACACC=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.11944454CA[5]CTC[1], NC_000001.11:g.11944454CA[4]CCC[1], NC_000001.11:g.11944454CA[4]CTC[1], NC_000001.11:g.11944454CA[3]CTC[1], NC_000001.10:g.12004511CA[5]CTC[1], NC_000001.10:g.12004511CA[4]CCC[1], NC_000001.10:g.12004511CA[4]CTC[1], NC_000001.10:g.12004511CA[3]CTC[1], NG_008159.1:g.14766CA[5]CTC[1], NG_008159.1:g.14766CA[4]CCC[1], NG_008159.1:g.14766CA[4]CTC[1], NG_008159.1:g.14766CA[3]CTC[1], NG_060048.1:g.243CA[5]CTC[1], NG_060048.1:g.243CA[4]CCC[1], NG_060048.1:g.243CA[4]CTC[1], NG_060048.1:g.243CA[3]CTC[1]

Select item 14915545552.

rs1491554555 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:11951163 (GRCh38)
1:12011220 (GRCh37)
Canonical SPDI:: NC_000001.11:11951160:TCTC:TC
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.11951161TC[1], NC_000001.10:g.12011218TC[1], NG_008159.1:g.21473TC[1]

Select item 14915206483.

rs1491520648 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAAGAAATATATATAGA,ATA,ATATA,ATATAGA,ATATATA [Show Flanks]
Chromosome:: 1:11967659 (GRCh38)
1:12027717 (GRCh37)
Canonical SPDI:: NC_000001.11:11967659::A,NC_000001.11:11967659::AAAGAAATATATATAGA,NC_000001.11:11967659::ATA,NC_000001.11:11967659::ATATA,NC_000001.11:11967659::ATATAGA,NC_000001.11:11967659::ATATATA
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATA=0.02405/34 (Korea1K)
HGVS:: NC_000001.11:g.11967659_11967660insA, NC_000001.11:g.11967659_11967660insAAAGAAATATATATAGA, NC_000001.11:g.11967659_11967660insATA, NC_000001.11:g.11967659_11967660insATATA, NC_000001.11:g.11967659_11967660insATATAGA, NC_000001.11:g.11967659_11967660insATATATA, NC_000001.10:g.12027716_12027717insA, NC_000001.10:g.12027716_12027717insAAAGAAATATATATAGA, NC_000001.10:g.12027716_12027717insATA, NC_000001.10:g.12027716_12027717insATATA, NC_000001.10:g.12027716_12027717insATATAGA, NC_000001.10:g.12027716_12027717insATATATA, NG_008159.1:g.37971_37972insA, NG_008159.1:g.37971_37972insAAAGAAATATATATAGA, NG_008159.1:g.37971_37972insATA, NG_008159.1:g.37971_37972insATATA, NG_008159.1:g.37971_37972insATATAGA, NG_008159.1:g.37971_37972insATATATA

Select item 14915173284.

rs1491517328 has merged into rs3047221 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCTCT,CTCTCTCTCTCT [Show Flanks]
Chromosome:: 1:11972222 (GRCh38)
1:12032279 (GRCh37)
Canonical SPDI:: NC_000001.11:11972209:CTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000001.11:11972209:CTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCT,NC_000001.11:11972209:CTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000001.11:11972209:CTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCT,NC_000001.11:11972209:CTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:11972209:CTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCT
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.377964/1849 (1000Genomes)
-=0.451815/119591 (TOPMED)
HGVS:: NC_000001.11:g.11972210CT[6], NC_000001.11:g.11972210CT[7], NC_000001.11:g.11972210CT[8], NC_000001.11:g.11972210CT[9], NC_000001.11:g.11972210CT[11], NC_000001.11:g.11972210CT[12], NC_000001.10:g.12032267CT[6], NC_000001.10:g.12032267CT[7], NC_000001.10:g.12032267CT[8], NC_000001.10:g.12032267CT[9], NC_000001.10:g.12032267CT[11], NC_000001.10:g.12032267CT[12], NG_008159.1:g.42522CT[6], NG_008159.1:g.42522CT[7], NG_008159.1:g.42522CT[8], NG_008159.1:g.42522CT[9], NG_008159.1:g.42522CT[11], NG_008159.1:g.42522CT[12]

Select item 14914725255.

rs1491472525 has merged into rs1272205754 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 1:11967595 (GRCh38)
1:12027652 (GRCh37)
Canonical SPDI:: NC_000001.11:11967583:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:11967583:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000001.11:11967583:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:11967583:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.01568/9 (NorthernSweden)
HGVS:: NC_000001.11:g.11967585GT[5], NC_000001.11:g.11967585GT[6], NC_000001.11:g.11967585GT[8], NC_000001.11:g.11967585GT[9], NC_000001.10:g.12027642GT[5], NC_000001.10:g.12027642GT[6], NC_000001.10:g.12027642GT[8], NC_000001.10:g.12027642GT[9], NG_008159.1:g.37897GT[5], NG_008159.1:g.37897GT[6], NG_008159.1:g.37897GT[8], NG_008159.1:g.37897GT[9]

Select item 14914526706.

rs1491452670 has merged into rs1306896238 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA [Show Flanks]
Chromosome:: 1:11967616 (GRCh38)
1:12027673 (GRCh37)
Canonical SPDI:: NC_000001.11:11967614:AAAAA:A,NC_000001.11:11967614:AAAAA:AA,NC_000001.11:11967614:AAAAA:AAA
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.001672/1 (NorthernSweden)
-=0.030825/512 (TOMMO)
HGVS:: NC_000001.11:g.11967616_11967619del, NC_000001.11:g.11967617_11967619del, NC_000001.11:g.11967618_11967619del, NC_000001.10:g.12027673_12027676del, NC_000001.10:g.12027674_12027676del, NC_000001.10:g.12027675_12027676del, NG_008159.1:g.37928_37931del, NG_008159.1:g.37929_37931del, NG_008159.1:g.37930_37931del

Select item 14914094397.

rs1491409439 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:11961092 (GRCh38)
1:12021150 (GRCh37)
Canonical SPDI:: NC_000001.11:11961092::T
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000016/2 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000447/2 (Estonian)
HGVS:: NC_000001.11:g.11961092_11961093insT, NC_000001.10:g.12021149_12021150insT, NG_008159.1:g.31404_31405insT

Select item 14913963448.

rs1491396344 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:11967583 (GRCh38)
1:12027640 (GRCh37)
Canonical SPDI:: NC_000001.11:11967582:AT:
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00025/4 (TOMMO)
-=0.0003/16 (GnomAD)
HGVS:: NC_000001.11:g.11967583_11967584del, NC_000001.10:g.12027640_12027641del, NG_008159.1:g.37895_37896del

Select item 14913131779.

rs1491313177 has merged into rs1553136726 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:11967664 (GRCh38)
1:12027721 (GRCh37)
Canonical SPDI:: NC_000001.11:11967658:TTTTTTTT:TTTTT,NC_000001.11:11967658:TTTTTTTT:TTTTTT,NC_000001.11:11967658:TTTTTTTT:TTTTTTT,NC_000001.11:11967658:TTTTTTTT:TTTTTTTTT,NC_000001.11:11967658:TTTTTTTT:TTTTTTTTTT,NC_000001.11:11967658:TTTTTTTT:TTTTTTTTTTT,NC_000001.11:11967658:TTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11967658:TTTTTTTT:TTTTTTTTTTTTT
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.11967664_11967666del, NC_000001.11:g.11967665_11967666del, NC_000001.11:g.11967666del, NC_000001.11:g.11967666dup, NC_000001.11:g.11967665_11967666dup, NC_000001.11:g.11967664_11967666dup, NC_000001.11:g.11967663_11967666dup, NC_000001.11:g.11967662_11967666dup, NC_000001.10:g.12027721_12027723del, NC_000001.10:g.12027722_12027723del, NC_000001.10:g.12027723del, NC_000001.10:g.12027723dup, NC_000001.10:g.12027722_12027723dup, NC_000001.10:g.12027721_12027723dup, NC_000001.10:g.12027720_12027723dup, NC_000001.10:g.12027719_12027723dup, NG_008159.1:g.37976_37978del, NG_008159.1:g.37977_37978del, NG_008159.1:g.37978del, NG_008159.1:g.37978dup, NG_008159.1:g.37977_37978dup, NG_008159.1:g.37976_37978dup, NG_008159.1:g.37975_37978dup, NG_008159.1:g.37974_37978dup

Select item 149118460410.

rs1491184604 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:11951161 (GRCh38)
1:12011219 (GRCh37)
Canonical SPDI:: NC_000001.11:11951161::A
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.11951161_11951162insA, NC_000001.10:g.12011218_12011219insA, NG_008159.1:g.21473_21474insA

Select item 149115636911.

rs1491156369 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:11954310 (GRCh38)
1:12014367 (GRCh37)
Canonical SPDI:: NC_000001.11:11954309:CA:
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.11954310_11954311del, NC_000001.10:g.12014367_12014368del, NG_008159.1:g.24622_24623del

Select item 149113607512.

rs1491136075 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:11972230 (GRCh38)
1:12032287 (GRCh37)
Canonical SPDI:: NC_000001.11:11972228:TTT:T
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000169/2 (ALFA)
-=0.000039/5 (GnomAD)
HGVS:: NC_000001.11:g.11972230_11972231del, NC_000001.10:g.12032287_12032288del, NG_008159.1:g.42542_42543del

Select item 149105480513.

rs1491054805 has merged into rs147497113 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 1:11959458 (GRCh38)
1:12019515 (GRCh37)
Canonical SPDI:: NC_000001.11:11959445:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11959445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:11959445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:11959445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:11959445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:11959445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:11959445:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.28614/1433 (1000Genomes)
HGVS:: NC_000001.11:g.11959458_11959460del, NC_000001.11:g.11959459_11959460del, NC_000001.11:g.11959460del, NC_000001.11:g.11959460dup, NC_000001.11:g.11959459_11959460dup, NC_000001.11:g.11959458_11959460dup, NC_000001.11:g.11959455_11959460dup, NC_000001.10:g.12019515_12019517del, NC_000001.10:g.12019516_12019517del, NC_000001.10:g.12019517del, NC_000001.10:g.12019517dup, NC_000001.10:g.12019516_12019517dup, NC_000001.10:g.12019515_12019517dup, NC_000001.10:g.12019512_12019517dup, NG_008159.1:g.29770_29772del, NG_008159.1:g.29771_29772del, NG_008159.1:g.29772del, NG_008159.1:g.29772dup, NG_008159.1:g.29771_29772dup, NG_008159.1:g.29770_29772dup, NG_008159.1:g.29767_29772dup

Select item 149103971114.

rs1491039711 has merged into rs550083636 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:11967967 (GRCh38)
1:12028024 (GRCh37)
Canonical SPDI:: NC_000001.11:11967955:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:11967955:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:11967955:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:11967955:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:11967955:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:11967955:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:11967955:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000001.11:g.11967967_11967971del, NC_000001.11:g.11967969_11967971del, NC_000001.11:g.11967970_11967971del, NC_000001.11:g.11967971del, NC_000001.11:g.11967971dup, NC_000001.11:g.11967970_11967971dup, NC_000001.11:g.11967969_11967971dup, NC_000001.10:g.12028024_12028028del, NC_000001.10:g.12028026_12028028del, NC_000001.10:g.12028027_12028028del, NC_000001.10:g.12028028del, NC_000001.10:g.12028028dup, NC_000001.10:g.12028027_12028028dup, NC_000001.10:g.12028026_12028028dup, NG_008159.1:g.38279_38283del, NG_008159.1:g.38281_38283del, NG_008159.1:g.38282_38283del, NG_008159.1:g.38283del, NG_008159.1:g.38283dup, NG_008159.1:g.38282_38283dup, NG_008159.1:g.38281_38283dup

Select item 149091714515.

rs1490917145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11939890 (GRCh38)
1:11999947 (GRCh37)
Canonical SPDI:: NC_000001.11:11939889:G:A
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.11939890G>A, NC_000001.10:g.11999947G>A, NG_008159.1:g.10202G>A, NG_081943.1:g.1223G>A

Select item 149090669616.

rs1490906696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:11962278 (GRCh38)
1:12022335 (GRCh37)
Canonical SPDI:: NC_000001.11:11962277:T:C
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005817/69 (ALFA)
C=0.000552/1 (Korea1K)
C=0.000681/11 (TOMMO)
C=0.006956/828 (GnomAD)
C=0.016085/47 (KOREAN)
T=0.5/16 (SGDP_PRJ)
HGVS:: NC_000001.11:g.11962278T>C, NC_000001.10:g.12022335T>C, NG_008159.1:g.32590T>C

Select item 149086265317.

rs1490862653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11963911 (GRCh38)
1:12023968 (GRCh37)
Canonical SPDI:: NC_000001.11:11963910:A:G
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.11963911A>G, NC_000001.10:g.12023968A>G, NG_008159.1:g.34223A>G

Select item 149079320618.

rs1490793206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11956315 (GRCh38)
1:12016372 (GRCh37)
Canonical SPDI:: NC_000001.11:11956314:C:T
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.11956315C>T, NC_000001.10:g.12016372C>T, NG_008159.1:g.26627C>T

Select item 149074273919.

rs1490742739 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:11970029 (GRCh38)
1:12030086 (GRCh37)
Canonical SPDI:: NC_000001.11:11970028:T:C,NC_000001.11:11970028:T:G
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
G=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.11970029T>C, NC_000001.11:g.11970029T>G, NC_000001.10:g.12030086T>C, NC_000001.10:g.12030086T>G, NG_008159.1:g.40341T>C, NG_008159.1:g.40341T>G

Select item 149071885520.

rs1490718855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:11970927 (GRCh38)
1:12030984 (GRCh37)
Canonical SPDI:: NC_000001.11:11970926:G:A,NC_000001.11:11970926:G:C
Gene:: PLOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.11970927G>A, NC_000001.11:g.11970927G>C, NC_000001.10:g.12030984G>A, NC_000001.10:g.12030984G>C, NG_008159.1:g.41239G>A, NG_008159.1:g.41239G>C

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