SNP Links for Gene (Select 101927709) - SNP

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Select item 14904750791.

rs1490475079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:118599559 (GRCh38)
2:119357135 (GRCh37)
Canonical SPDI:: NC_000002.12:118599558:A:G
Gene:: LOC101927709 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.118599559A>G, NC_000002.11:g.119357135A>G

Select item 14900081932.

rs1490008193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:118600067 (GRCh38)
2:119357643 (GRCh37)
Canonical SPDI:: NC_000002.12:118600066:C:T
Gene:: LOC101927709 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000068/18 (TOPMED)
T=0.000093/13 (GnomAD)
HGVS:: NC_000002.12:g.118600067C>T, NC_000002.11:g.119357643C>T, NR_110272.1:n.883G>A

Select item 14892589093.

rs1489258909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:118601996 (GRCh38)
2:119359572 (GRCh37)
Canonical SPDI:: NC_000002.12:118601995:G:T
Gene:: LOC101927709 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118601996G>T, NC_000002.11:g.119359572G>T

Select item 14889126454.

rs1488912645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:118601909 (GRCh38)
2:119359485 (GRCh37)
Canonical SPDI:: NC_000002.12:118601908:T:C
Gene:: LOC101927709 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118601909T>C, NC_000002.11:g.119359485T>C

Select item 14861542735.

rs1486154273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:118603838 (GRCh38)
2:119361414 (GRCh37)
Canonical SPDI:: NC_000002.12:118603837:C:T
Gene:: LOC101927709 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.118603838C>T, NC_000002.11:g.119361414C>T

Select item 14847936616.

rs1484793661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:118603394 (GRCh38)
2:119360970 (GRCh37)
Canonical SPDI:: NC_000002.12:118603393:T:A
Gene:: LOC101927709 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.118603394T>A, NC_000002.11:g.119360970T>A

Select item 14847116337.

rs1484711633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:118602277 (GRCh38)
2:119359853 (GRCh37)
Canonical SPDI:: NC_000002.12:118602276:T:C
Gene:: LOC101927709 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.118602277T>C, NC_000002.11:g.119359853T>C

Select item 14845178068.

rs1484517806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:118601769 (GRCh38)
2:119359345 (GRCh37)
Canonical SPDI:: NC_000002.12:118601768:A:G
Gene:: LOC101927709 (Varview)
Functional Consequence:: intron_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_000002.12:g.118601769A>G, NC_000002.11:g.119359345A>G

Select item 14838183549.

rs1483818354 has merged into rs201284528 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 2:118604788 (GRCh38)
2:119362364 (GRCh37)
Canonical SPDI:: NC_000002.12:118604787:TTTTTTT:TTTTTT,NC_000002.12:118604787:TTTTTTT:TTTTTTTT
Gene:: LOC101927709 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.01038/52 (1000Genomes)
HGVS:: NC_000002.12:g.118604794del, NC_000002.12:g.118604794dup, NC_000002.11:g.119362370del, NC_000002.11:g.119362370dup

Select item 148283857510.

rs1482838575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:118604268 (GRCh38)
2:119361844 (GRCh37)
Canonical SPDI:: NC_000002.12:118604267:G:A
Gene:: LOC101927709 (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_000002.12:g.118604268G>A, NC_000002.11:g.119361844G>A

Select item 148276623311.

rs1482766233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:118604966 (GRCh38)
2:119362542 (GRCh37)
Canonical SPDI:: NC_000002.12:118604965:C:T
Gene:: LOC101927709 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118604966C>T, NC_000002.11:g.119362542C>T

Select item 148068467612.

rs1480684676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:118600682 (GRCh38)
2:119358258 (GRCh37)
Canonical SPDI:: NC_000002.12:118600681:C:G
Gene:: LOC101927709 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118600682C>G, NC_000002.11:g.119358258C>G

Select item 148041505413.

rs1480415054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:118604050 (GRCh38)
2:119361626 (GRCh37)
Canonical SPDI:: NC_000002.12:118604049:C:A,NC_000002.12:118604049:C:T
Gene:: LOC101927709 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.118604050C>A, NC_000002.12:g.118604050C>T, NC_000002.11:g.119361626C>A, NC_000002.11:g.119361626C>T

Select item 147992825814.

rs1479928258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:118602780 (GRCh38)
2:119360356 (GRCh37)
Canonical SPDI:: NC_000002.12:118602779:G:A
Gene:: LOC101927709 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.118602780G>A, NC_000002.11:g.119360356G>A, NR_110272.1:n.187C>T

Select item 147970308015.

rs1479703080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:118600202 (GRCh38)
2:119357778 (GRCh37)
Canonical SPDI:: NC_000002.12:118600201:G:T
Gene:: LOC101927709 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.118600202G>T, NC_000002.11:g.119357778G>T, NR_110272.1:n.748C>A

Select item 147939021116.

rs1479390211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:118600218 (GRCh38)
2:119357794 (GRCh37)
Canonical SPDI:: NC_000002.12:118600217:C:T
Gene:: LOC101927709 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.118600218C>T, NC_000002.11:g.119357794C>T, NR_110272.1:n.732G>A

Select item 147870794817.

rs1478707948 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:118600533 (GRCh38)
2:119358109 (GRCh37)
Canonical SPDI:: NC_000002.12:118600532:C:
Gene:: LOC101927709 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.118600533del, NC_000002.11:g.119358109del

Select item 147847630118.

rs1478476301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:118602670 (GRCh38)
2:119360246 (GRCh37)
Canonical SPDI:: NC_000002.12:118602669:A:C
Gene:: LOC101927709 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.118602670A>C, NC_000002.11:g.119360246A>C, NR_110272.1:n.297T>G

Select item 147843392519.

rs1478433925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:118601962 (GRCh38)
2:119359538 (GRCh37)
Canonical SPDI:: NC_000002.12:118601961:G:C,NC_000002.12:118601961:G:T
Gene:: LOC101927709 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.118601962G>C, NC_000002.12:g.118601962G>T, NC_000002.11:g.119359538G>C, NC_000002.11:g.119359538G>T

Select item 147802134220.

rs1478021342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:118604776 (GRCh38)
2:119362352 (GRCh37)
Canonical SPDI:: NC_000002.12:118604775:G:A
Gene:: LOC101927709 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.118604776G>A, NC_000002.11:g.119362352G>A

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