SNP Links for Gene (Select 4352) - SNP

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Items: 1 to 20 of 4366

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Select item 14913060201.

rs1491306020 has merged into rs374643640 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:43342946 (GRCh38)
1:43808617 (GRCh37)
Canonical SPDI:: NC_000001.11:43342934:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:43342934:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:43342934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:43342934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:43342934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:43342934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:43342934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:43342934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.18371/920 (1000Genomes)
-=0.375/15 (GENOME_DK)
-=0.37776/377 (GoNL)
-=0.38592/1431 (TWINSUK)
-=0.38713/1492 (ALSPAC)
HGVS:: NC_000001.11:g.43342946_43342949del, NC_000001.11:g.43342947_43342949del, NC_000001.11:g.43342948_43342949del, NC_000001.11:g.43342949del, NC_000001.11:g.43342949dup, NC_000001.11:g.43342948_43342949dup, NC_000001.11:g.43342947_43342949dup, NC_000001.11:g.43342946_43342949dup, NC_000001.10:g.43808617_43808620del, NC_000001.10:g.43808618_43808620del, NC_000001.10:g.43808619_43808620del, NC_000001.10:g.43808620del, NC_000001.10:g.43808620dup, NC_000001.10:g.43808619_43808620dup, NC_000001.10:g.43808618_43808620dup, NC_000001.10:g.43808617_43808620dup, NG_007525.1:g.10143_10146del, NG_007525.1:g.10144_10146del, NG_007525.1:g.10145_10146del, NG_007525.1:g.10146del, NG_007525.1:g.10146dup, NG_007525.1:g.10145_10146dup, NG_007525.1:g.10144_10146dup, NG_007525.1:g.10143_10146dup

Select item 14912618032.

rs1491261803 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT,CTTTCTT [Show Flanks]
Chromosome:: 1:43342935 (GRCh38)
1:43808607 (GRCh37)
Canonical SPDI:: NC_000001.11:43342935:TT:TTCTT,NC_000001.11:43342935:TT:TTCTTTCTT
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.000169/2 (ALFA)
TTCTTTC=0.000004/1 (TOPMED)
TTC=0.000113/3 (TOMMO)
HGVS:: NC_000001.11:g.43342937_43342938insCTT, NC_000001.11:g.43342936_43342937TTCT[2]T[1], NC_000001.10:g.43808608_43808609insCTT, NC_000001.10:g.43808607_43808608TTCT[2]T[1], NG_007525.1:g.10134_10135insCTT, NG_007525.1:g.10133_10134TTCT[2]T[1]

Select item 14909378863.

rs1490937886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:43347050 (GRCh38)
1:43812721 (GRCh37)
Canonical SPDI:: NC_000001.11:43347049:A:C,NC_000001.11:43347049:A:G
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.43347050A>C, NC_000001.11:g.43347050A>G, NC_000001.10:g.43812721A>C, NC_000001.10:g.43812721A>G, NG_007525.1:g.14247A>C, NG_007525.1:g.14247A>G

Select item 14905390774.

rs1490539077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:43335725 (GRCh38)
1:43801396 (GRCh37)
Canonical SPDI:: NC_000001.11:43335724:T:A,NC_000001.11:43335724:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.43335725T>A, NC_000001.11:g.43335725T>G, NC_000001.10:g.43801396T>A, NC_000001.10:g.43801396T>G, NG_007525.1:g.2922T>A, NG_007525.1:g.2922T>G

Select item 14902998495.

rs1490299849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:43338667 (GRCh38)
1:43804338 (GRCh37)
Canonical SPDI:: NC_000001.11:43338666:A:T
Gene:: MPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.43338667A>T, NC_000001.10:g.43804338A>T, NG_007525.1:g.5864A>T, NM_005373.3:c.338A>T, NM_005373.2:c.338A>T, NP_005364.1:p.Asn113Ile

Select item 14901639076.

rs1490163907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:43340037 (GRCh38)
1:43805708 (GRCh37)
Canonical SPDI:: NC_000001.11:43340036:A:G
Gene:: MPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43340037A>G, NC_000001.10:g.43805708A>G, NG_007525.1:g.7234A>G, NM_005373.3:c.764A>G, NM_005373.2:c.764A>G, NP_005364.1:p.Gln255Arg

Select item 14901450087.

rs1490145008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43345094 (GRCh38)
1:43810765 (GRCh37)
Canonical SPDI:: NC_000001.11:43345093:C:T
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.43345094C>T, NC_000001.10:g.43810765C>T, NG_007525.1:g.12291C>T

Select item 14900144448.

rs1490014444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43336276 (GRCh38)
1:43801947 (GRCh37)
Canonical SPDI:: NC_000001.11:43336275:G:A
Gene:: MPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.43336276G>A, NC_000001.10:g.43801947G>A, NG_007525.1:g.3473G>A

Select item 14896866879.

rs1489686687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:43354887 (GRCh38)
1:43820559 (GRCh37)
Canonical SPDI:: NC_000001.11:43354887:AA:AAA
Gene:: MPL (Varview), CDC20-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.43354889dup, NC_000001.10:g.43820560dup, NG_007525.1:g.22086dup, XR_001738025.3:n.990dup, XR_001738025.2:n.932dup, XR_001738025.1:n.990dup, XR_007066043.1:n.849dup, XR_007066046.1:n.566dup, XR_007066044.1:n.539dup, XR_007066047.1:n.499dup, XR_007066045.1:n.472dup

Select item 148964467010.

rs1489644670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43337315 (GRCh38)
1:43802986 (GRCh37)
Canonical SPDI:: NC_000001.11:43337314:T:C
Gene:: MPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43337315T>C, NC_000001.10:g.43802986T>C, NG_007525.1:g.4512T>C

Select item 148944398311.

rs1489443983 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:43336792 (GRCh38)
1:43802463 (GRCh37)
Canonical SPDI:: NC_000001.11:43336790:AAA:A
Gene:: MPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.43336792_43336793del, NC_000001.10:g.43802463_43802464del, NG_007525.1:g.3989_3990del

Select item 148929078012.

rs1489290780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:43339115 (GRCh38)
1:43804786 (GRCh37)
Canonical SPDI:: NC_000001.11:43339114:G:A,NC_000001.11:43339114:G:T
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.43339115G>A, NC_000001.11:g.43339115G>T, NC_000001.10:g.43804786G>A, NC_000001.10:g.43804786G>T, NG_007525.1:g.6312G>A, NG_007525.1:g.6312G>T

Select item 148918444313.

rs1489184443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:43348257 (GRCh38)
1:43813928 (GRCh37)
Canonical SPDI:: NC_000001.11:43348256:T:C,NC_000001.11:43348256:T:G
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.43348257T>C, NC_000001.11:g.43348257T>G, NC_000001.10:g.43813928T>C, NC_000001.10:g.43813928T>G, NG_007525.1:g.15454T>C, NG_007525.1:g.15454T>G

Select item 148917334114.

rs1489173341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43349169 (GRCh38)
1:43814840 (GRCh37)
Canonical SPDI:: NC_000001.11:43349168:G:A
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43349169G>A, NC_000001.10:g.43814840G>A, NG_007525.1:g.16366G>A

Select item 148889473715.

rs1488894737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43353975 (GRCh38)
1:43819646 (GRCh37)
Canonical SPDI:: NC_000001.11:43353974:C:T
Gene:: MPL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.43353975C>T, NC_000001.10:g.43819646C>T, NG_007525.1:g.21172C>T, NM_005373.3:c.*1203C>T, NM_005373.2:c.*1203C>T

Select item 148830777416.

rs1488307774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43339642 (GRCh38)
1:43805313 (GRCh37)
Canonical SPDI:: NC_000001.11:43339641:C:T
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000001.11:g.43339642C>T, NC_000001.10:g.43805313C>T, NG_007525.1:g.6839C>T

Select item 148801324017.

rs1488013240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:43348743 (GRCh38)
1:43814414 (GRCh37)
Canonical SPDI:: NC_000001.11:43348742:T:G
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.43348743T>G, NC_000001.10:g.43814414T>G, NG_007525.1:g.15940T>G

Select item 148793995018.

rs1487939950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:43349461 (GRCh38)
1:43815132 (GRCh37)
Canonical SPDI:: NC_000001.11:43349460:A:G
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43349461A>G, NC_000001.10:g.43815132A>G, NG_007525.1:g.16658A>G

Select item 148765399519.

rs1487653995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:43338520 (GRCh38)
1:43804191 (GRCh37)
Canonical SPDI:: NC_000001.11:43338519:G:C
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.43338520G>C, NC_000001.10:g.43804191G>C, NG_007525.1:g.5717G>C

Select item 148756882620.

rs1487568826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:43348102 (GRCh38)
1:43813773 (GRCh37)
Canonical SPDI:: NC_000001.11:43348101:A:C,NC_000001.11:43348101:A:G
Gene:: MPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43348102A>C, NC_000001.11:g.43348102A>G, NC_000001.10:g.43813773A>C, NC_000001.10:g.43813773A>G, NG_007525.1:g.15299A>C, NG_007525.1:g.15299A>G

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