SNP Links for Gene (Select 51136) - SNP

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Items: 1 to 20 of 3286

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Select item 14910965561.

rs1491096556 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:59961033 (GRCh38)
17:58038394 (GRCh37)
Canonical SPDI:: NC_000017.11:59961032:CT:
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59961033_59961034del, NC_000017.10:g.58038394_58038395del

Select item 14905596612.

rs1490559661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:59959080 (GRCh38)
17:58036441 (GRCh37)
Canonical SPDI:: NC_000017.11:59959079:C:A,NC_000017.11:59959079:C:T
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.59959080C>A, NC_000017.11:g.59959080C>T, NC_000017.10:g.58036441C>A, NC_000017.10:g.58036441C>T

Select item 14902458023.

rs1490245802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:59956802 (GRCh38)
17:58034163 (GRCh37)
Canonical SPDI:: NC_000017.11:59956801:A:C
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.59956802A>C, NC_000017.10:g.58034163A>C

Select item 14902349154.

rs1490234915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59957933 (GRCh38)
17:58035294 (GRCh37)
Canonical SPDI:: NC_000017.11:59957932:T:C
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.59957933T>C, NC_000017.10:g.58035294T>C

Select item 14902122915.

rs1490212291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59964680 (GRCh38)
17:58042041 (GRCh37)
Canonical SPDI:: NC_000017.11:59964679:T:C
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.59964680T>C, NC_000017.10:g.58042041T>C, NM_016125.4:c.-17A>G, NM_016125.3:c.-17A>G

Select item 14900176956.

rs1490017695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:59964938 (GRCh38)
17:58042299 (GRCh37)
Canonical SPDI:: NC_000017.11:59964937:A:T
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59964938A>T, NC_000017.10:g.58042299A>T

Select item 14898604157.

rs1489860415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59965969 (GRCh38)
17:58043330 (GRCh37)
Canonical SPDI:: NC_000017.11:59965968:A:G
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.59965969A>G, NC_000017.10:g.58043330A>G

Select item 14898392618.

rs1489839261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59959415 (GRCh38)
17:58036776 (GRCh37)
Canonical SPDI:: NC_000017.11:59959414:A:G
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.59959415A>G, NC_000017.10:g.58036776A>G

Select item 14895826589.

rs1489582658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59964365 (GRCh38)
17:58041726 (GRCh37)
Canonical SPDI:: NC_000017.11:59964364:G:A
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.59964365G>A, NC_000017.10:g.58041726G>A

Select item 148939657510.

rs1489396575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59953133 (GRCh38)
17:58030494 (GRCh37)
Canonical SPDI:: NC_000017.11:59953132:G:A
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59953133G>A, NC_000017.10:g.58030494G>A

Select item 148928439811.

rs1489284398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59953963 (GRCh38)
17:58031324 (GRCh37)
Canonical SPDI:: NC_000017.11:59953962:C:T
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0172/77 (ALFA)
HGVS:: NC_000017.11:g.59953963C>T, NC_000017.10:g.58031324C>T

Select item 148927732712.

rs1489277327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:59964963 (GRCh38)
17:58042324 (GRCh37)
Canonical SPDI:: NC_000017.11:59964962:C:G
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.59964963C>G, NC_000017.10:g.58042324C>G

Select item 148875496113.

rs1488754961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:59965913 (GRCh38)
17:58043274 (GRCh37)
Canonical SPDI:: NC_000017.11:59965912:C:A,NC_000017.11:59965912:C:T
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59965913C>A, NC_000017.11:g.59965913C>T, NC_000017.10:g.58043274C>A, NC_000017.10:g.58043274C>T

Select item 148872662914.

rs1488726629 has merged into rs869239284 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>-,TAATAA [Show Flanks]
Chromosome:: 17:59960920 (GRCh38)
17:58038281 (GRCh37)
Canonical SPDI:: NC_000017.11:59960916:TAATAA:TAA,NC_000017.11:59960916:TAATAA:TAATAATAA
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.59960917TAA[1], NC_000017.11:g.59960917TAA[3], NC_000017.10:g.58038278TAA[1], NC_000017.10:g.58038278TAA[3]

Select item 148862278815.

rs1488622788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59962443 (GRCh38)
17:58039804 (GRCh37)
Canonical SPDI:: NC_000017.11:59962442:A:G
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.59962443A>G, NC_000017.10:g.58039804A>G, NR_002924.3:n.1838T>C

Select item 148856750916.

rs1488567509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:59963691 (GRCh38)
17:58041052 (GRCh37)
Canonical SPDI:: NC_000017.11:59963690:G:A,NC_000017.11:59963690:G:C
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59963691G>A, NC_000017.11:g.59963691G>C, NC_000017.10:g.58041052G>A, NC_000017.10:g.58041052G>C

Select item 148807991317.

rs1488079913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:59960188 (GRCh38)
17:58037549 (GRCh37)
Canonical SPDI:: NC_000017.11:59960187:A:C
Gene:: RNFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.59960188A>C, NC_000017.10:g.58037549A>C

Select item 148795761218.

rs1487957612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:59963820 (GRCh38)
17:58041181 (GRCh37)
Canonical SPDI:: NC_000017.11:59963819:T:A
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59963820T>A, NC_000017.10:g.58041181T>A

Select item 148771771219.

rs1487717712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:59963002 (GRCh38)
17:58040363 (GRCh37)
Canonical SPDI:: NC_000017.11:59963001:A:C
Gene:: RNFT1 (Varview), TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.59963002A>C, NC_000017.10:g.58040363A>C, NM_016125.4:c.339T>G, NM_016125.3:c.339T>G, NR_002924.3:n.1489T>G, NP_057209.3:p.Ser113Arg

Select item 148760828420.

rs1487608284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:59958410 (GRCh38)
17:58035771 (GRCh37)
Canonical SPDI:: NC_000017.11:59958409:T:G
Gene:: RNFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000022/5 (GnomAD_exomes)
G=0.001638/3 (Korea1K)
HGVS:: NC_000017.11:g.59958410T>G, NC_000017.10:g.58035771T>G, NM_016125.4:c.727A>C, NM_016125.3:c.727A>C, NP_057209.3:p.Ser243Arg

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