SNP Links for Gene (Select 115416) - SNP

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Select item 14915860241.

rs1491586024 has merged into rs144212150 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTT>-,TGTTTGTT [Show Flanks]
Chromosome:: 7:23310031 (GRCh38)
7:23349650 (GRCh37)
Canonical SPDI:: NC_000007.14:23310026:TGTTTGTT:TGTT,NC_000007.14:23310026:TGTTTGTT:TGTTTGTTTGTT
Gene:: IGF2BP3 (Varview), MALSU1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTTGTT=0.01344/223 (ALFA)
-=0.015/9 (NorthernSweden)
-=0.023732/88 (TWINSUK)
-=0.024048/24 (GoNL)
-=0.025/1 (GENOME_DK)
-=0.025428/98 (ALSPAC)
-=0.116661/30879 (TOPMED)
-=0.1478/739 (1000Genomes)
HGVS:: NC_000007.14:g.23310027TGTT[1], NC_000007.14:g.23310027TGTT[3], NC_000007.13:g.23349646TGTT[1], NC_000007.13:g.23349646TGTT[3], NM_138446.2:c.*484TGTT[1], NM_138446.2:c.*484TGTT[3]

Select item 14914329912.

rs1491432991 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 7:23307786 (GRCh38)
7:23347406 (GRCh37)
Canonical SPDI:: NC_000007.14:23307786::AC
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0.000084/1 (ALFA)
AC=0.000067/9 (GnomAD)
HGVS:: NC_000007.14:g.23307786_23307787insAC, NC_000007.13:g.23347405_23347406insAC

Select item 14913475323.

rs1491347532 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:23306429 (GRCh38)
7:23346048 (GRCh37)
Canonical SPDI:: NC_000007.14:23306428:CT:
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.23306429_23306430del, NC_000007.13:g.23346048_23346049del

Select item 14911946334.

rs1491194633 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:23310028 (GRCh38)
7:23349647 (GRCh37)
Canonical SPDI:: NC_000007.14:23310025:GTGT:GT
Gene:: IGF2BP3 (Varview), MALSU1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.23310026GT[1], NC_000007.13:g.23349645GT[1], NM_138446.2:c.*483GT[1]

Select item 14906383015.

rs1490638301 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACAAAAAA>- [Show Flanks]
Chromosome:: 7:23303640 (GRCh38)
7:23343259 (GRCh37)
Canonical SPDI:: NC_000007.14:23303631:ACAAAAAAGACAAAAAA:ACAAAAAA
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.23303640_23303648del, NC_000007.13:g.23343259_23343267del

Select item 14906058176.

rs1490605817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:23299641 (GRCh38)
7:23339260 (GRCh37)
Canonical SPDI:: NC_000007.14:23299640:C:T
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.23299641C>T, NC_000007.13:g.23339260C>T

Select item 14903875577.

rs1490387557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:23306193 (GRCh38)
7:23345812 (GRCh37)
Canonical SPDI:: NC_000007.14:23306192:C:A,NC_000007.14:23306192:C:T
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.23306193C>A, NC_000007.14:g.23306193C>T, NC_000007.13:g.23345812C>A, NC_000007.13:g.23345812C>T

Select item 14899234268.

rs1489923426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:23307101 (GRCh38)
7:23346720 (GRCh37)
Canonical SPDI:: NC_000007.14:23307100:T:C
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.23307101T>C, NC_000007.13:g.23346720T>C

Select item 14896307089.

rs1489630708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:23304070 (GRCh38)
7:23343689 (GRCh37)
Canonical SPDI:: NC_000007.14:23304069:C:T
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.23304070C>T, NC_000007.13:g.23343689C>T

Select item 148958614710.

rs1489586147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:23309129 (GRCh38)
7:23348748 (GRCh37)
Canonical SPDI:: NC_000007.14:23309128:C:A
Gene:: MALSU1 (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_000007.14:g.23309129C>A, NC_000007.13:g.23348748C>A

Select item 148947160211.

rs1489471602 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:23308354 (GRCh38)
7:23347973 (GRCh37)
Canonical SPDI:: NC_000007.14:23308353:AA:A
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.23308355del, NC_000007.13:g.23347974del

Select item 148928960012.

rs1489289600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:23306863 (GRCh38)
7:23346482 (GRCh37)
Canonical SPDI:: NC_000007.14:23306862:A:T
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.23306863A>T, NC_000007.13:g.23346482A>T

Select item 148904483913.

rs1489044839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:23302043 (GRCh38)
7:23341662 (GRCh37)
Canonical SPDI:: NC_000007.14:23302042:G:T
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.23302043G>T, NC_000007.13:g.23341662G>T

Select item 148884642514.

rs1488846425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:23299280 (GRCh38)
7:23338899 (GRCh37)
Canonical SPDI:: NC_000007.14:23299279:C:G
Gene:: MALSU1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.23299280C>G, NC_000007.13:g.23338899C>G

Select item 148879480615.

rs1488794806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:23299832 (GRCh38)
7:23339451 (GRCh37)
Canonical SPDI:: NC_000007.14:23299831:G:A
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.23299832G>A, NC_000007.13:g.23339451G>A

Select item 148856638316.

rs1488566383 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 7:23302678 (GRCh38)
7:23342297 (GRCh37)
Canonical SPDI:: NC_000007.14:23302674:AAAGAAA:AAA
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.000142/2 (ALFA)
-=0.000072/19 (TOPMED)
-=0.000078/11 (GnomAD)
HGVS:: NC_000007.14:g.23302678_23302681del, NC_000007.13:g.23342297_23342300del

Select item 148770257817.

rs1487702578 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 7:23308013 (GRCh38)
7:23347632 (GRCh37)
Canonical SPDI:: NC_000007.14:23308012:A:
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.23308013del, NC_000007.13:g.23347632del

Select item 148768039018.

rs1487680390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:23304960 (GRCh38)
7:23344579 (GRCh37)
Canonical SPDI:: NC_000007.14:23304959:T:C
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.23304960T>C, NC_000007.13:g.23344579T>C

Select item 148733326419.

rs1487333264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:23305376 (GRCh38)
7:23344995 (GRCh37)
Canonical SPDI:: NC_000007.14:23305375:C:G
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.23305376C>G, NC_000007.13:g.23344995C>G

Select item 148727890420.

rs1487278904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:23304977 (GRCh38)
7:23344596 (GRCh37)
Canonical SPDI:: NC_000007.14:23304976:G:A
Gene:: MALSU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.23304977G>A, NC_000007.13:g.23344596G>A

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