SNP Links for Gene (Select 23520) - SNP

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Items: 1 to 20 of 993

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Select item 14897265381.

rs1489726538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:164197842 (GRCh38)
4:165118994 (GRCh37)
Canonical SPDI:: NC_000004.12:164197841:T:C
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.164197842T>C, NC_000004.11:g.165118994T>C, NG_074974.1:g.80A>G

Select item 14891956482.

rs1489195648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:164197506 (GRCh38)
4:165118658 (GRCh37)
Canonical SPDI:: NC_000004.12:164197505:T:G
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.164197506T>G, NC_000004.11:g.165118658T>G, NG_074974.1:g.416A>C, NM_001388483.1:c.206A>C, NM_012403.1:c.206A>C

Select item 14884905063.

rs1488490506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:164197653 (GRCh38)
4:165118805 (GRCh37)
Canonical SPDI:: NC_000004.12:164197652:T:C
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.164197653T>C, NC_000004.11:g.165118805T>C, NG_074974.1:g.269A>G, NM_001388483.1:c.59A>G, NM_012403.1:c.59A>G

Select item 14875178684.

rs1487517868 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACAGAGAGAGAGAGA>- [Show Flanks]
Chromosome:: 4:164199673 (GRCh38)
4:165120825 (GRCh37)
Canonical SPDI:: NC_000004.12:164199671:ACACACACACAGAGAGAGAGAGA:A
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.164199673_164199694del, NC_000004.11:g.165120825_165120846del

Select item 14874673395.

rs1487467339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:164199155 (GRCh38)
4:165120307 (GRCh37)
Canonical SPDI:: NC_000004.12:164199154:A:G
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.164199155A>G, NC_000004.11:g.165120307A>G

Select item 14859617256.

rs1485961725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:164199613 (GRCh38)
4:165120765 (GRCh37)
Canonical SPDI:: NC_000004.12:164199612:G:T
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0011/13 (ALFA)
HGVS:: NC_000004.12:g.164199613G>T, NC_000004.11:g.165120765G>T

Select item 14852184957.

rs1485218495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:164197176 (GRCh38)
4:165118328 (GRCh37)
Canonical SPDI:: NC_000004.12:164197175:G:A
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.164197176G>A, NC_000004.11:g.165118328G>A, NG_074974.1:g.746C>T, NM_001388483.1:c.536C>T, NM_012403.1:c.536C>T

Select item 14846096278.

rs1484609627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:164196971 (GRCh38)
4:165118123 (GRCh37)
Canonical SPDI:: NC_000004.12:164196970:T:C
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.164196971T>C, NC_000004.11:g.165118123T>C, NG_074974.1:g.951A>G, NM_001388483.1:c.*36A>G

Select item 14829472269.

rs1482947226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:164196811 (GRCh38)
4:165117963 (GRCh37)
Canonical SPDI:: NC_000004.12:164196810:C:T
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000425/7 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.001027/3 (KOREAN)
HGVS:: NC_000004.12:g.164196811C>T, NC_000004.11:g.165117963C>T, NG_074974.1:g.1111G>A

Select item 148251957710.

rs1482519577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:164197107 (GRCh38)
4:165118259 (GRCh37)
Canonical SPDI:: NC_000004.12:164197106:C:T
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.164197107C>T, NC_000004.11:g.165118259C>T, NG_074974.1:g.815G>A, NM_001388483.1:c.605G>A, NM_012403.1:c.605G>A

Select item 148222515511.

rs1482225155 has merged into rs376565727 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 4:164199657 (GRCh38)
4:165120809 (GRCh37)
Canonical SPDI:: NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:164199632:CACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: MARCHF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000004.12:g.164199633CA[12], NC_000004.12:g.164199633CA[13], NC_000004.12:g.164199633CA[14], NC_000004.12:g.164199633CA[15], NC_000004.12:g.164199633CA[16], NC_000004.12:g.164199633CA[17], NC_000004.12:g.164199633CA[18], NC_000004.12:g.164199633CA[19], NC_000004.12:g.164199633CA[20], NC_000004.12:g.164199633CA[21], NC_000004.12:g.164199633CA[22], NC_000004.12:g.164199633CA[23], NC_000004.12:g.164199633CA[24], NC_000004.12:g.164199633CA[26], NC_000004.12:g.164199633CA[27], NC_000004.12:g.164199633CA[28], NC_000004.12:g.164199633CA[29], NC_000004.12:g.164199633CA[30], NC_000004.12:g.164199633CA[31], NC_000004.11:g.165120785CA[12], NC_000004.11:g.165120785CA[13], NC_000004.11:g.165120785CA[14], NC_000004.11:g.165120785CA[15], NC_000004.11:g.165120785CA[16], NC_000004.11:g.165120785CA[17], NC_000004.11:g.165120785CA[18], NC_000004.11:g.165120785CA[19], NC_000004.11:g.165120785CA[20], NC_000004.11:g.165120785CA[21], NC_000004.11:g.165120785CA[22], NC_000004.11:g.165120785CA[23], NC_000004.11:g.165120785CA[24], NC_000004.11:g.165120785CA[26], NC_000004.11:g.165120785CA[27], NC_000004.11:g.165120785CA[28], NC_000004.11:g.165120785CA[29], NC_000004.11:g.165120785CA[30], NC_000004.11:g.165120785CA[31]

Select item 148217253712.

rs1482172537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:164198708 (GRCh38)
4:165119860 (GRCh37)
Canonical SPDI:: NC_000004.12:164198707:G:T
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.164198708G>T, NC_000004.11:g.165119860G>T

Select item 148173904613.

rs1481739046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:164196770 (GRCh38)
4:165117922 (GRCh37)
Canonical SPDI:: NC_000004.12:164196769:T:C
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.164196770T>C, NC_000004.11:g.165117922T>C, NG_074974.1:g.1152A>G

Select item 148153068114.

rs1481530681 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACAGAGA>- [Show Flanks]
Chromosome:: 4:164199673 (GRCh38)
4:165120825 (GRCh37)
Canonical SPDI:: NC_000004.12:164199671:ACACACACACAGAGA:A
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00084/10 (ALFA)
-=0.00029/5 (TOMMO)
-=0.00282/145 (GnomAD)
HGVS:: NC_000004.12:g.164199673_164199686del, NC_000004.11:g.165120825_165120838del

Select item 148084292215.

rs1480842922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:164198650 (GRCh38)
4:165119802 (GRCh37)
Canonical SPDI:: NC_000004.12:164198649:T:C
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000004.12:g.164198650T>C, NC_000004.11:g.165119802T>C

Select item 148054649216.

rs1480546492 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGCAGGA [Show Flanks]
Chromosome:: 4:164199617 (GRCh38)
4:165120770 (GRCh37)
Canonical SPDI:: NC_000004.12:164199617:AGAGCAGGA:AGAGCAGGAGAGCAGGA
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGCAGGAGAGCAGGA=0.000084/1 (ALFA)
AGAGCAGG=0.000038/5 (GnomAD)
HGVS:: NC_000004.12:g.164199619_164199626dup, NC_000004.11:g.165120771_165120778dup

Select item 148019106617.

rs1480191066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:164196819 (GRCh38)
4:165117971 (GRCh37)
Canonical SPDI:: NC_000004.12:164196818:C:A,NC_000004.12:164196818:C:G
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.164196819C>A, NC_000004.12:g.164196819C>G, NC_000004.11:g.165117971C>A, NC_000004.11:g.165117971C>G, NG_074974.1:g.1103G>T, NG_074974.1:g.1103G>C

Select item 148001250718.

rs1480012507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:164197053 (GRCh38)
4:165118205 (GRCh37)
Canonical SPDI:: NC_000004.12:164197052:T:C
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.164197053T>C, NC_000004.11:g.165118205T>C, NG_074974.1:g.869A>G, NM_001388483.1:c.659A>G, NM_012403.1:c.659A>G

Select item 147901809419.

rs1479018094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:164199218 (GRCh38)
4:165120370 (GRCh37)
Canonical SPDI:: NC_000004.12:164199217:C:G,NC_000004.12:164199217:C:T
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.164199218C>G, NC_000004.12:g.164199218C>T, NC_000004.11:g.165120370C>G, NC_000004.11:g.165120370C>T

Select item 147896723220.

rs1478967232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:164198156 (GRCh38)
4:165119308 (GRCh37)
Canonical SPDI:: NC_000004.12:164198155:G:T
Gene:: MARCHF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.164198156G>T, NC_000004.11:g.165119308G>T

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