SNP Links for Gene (Select 93621) - SNP

Links from Gene

Items: 1 to 20 of 1559

<< First< Prev

Page of 78

Next >Last >>

Select item 14912197751.

rs1491219775 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:6638406 (GRCh38)
4:6640133 (GRCh37)
Canonical SPDI:: NC_000004.12:6638404:AGA:A
Gene:: LOC124900653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.6638406_6638407del, NC_000004.11:g.6640133_6640134del, XR_007058007.1:n.727_728del

Select item 14908893132.

rs1490889313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6639828 (GRCh38)
4:6641555 (GRCh37)
Canonical SPDI:: NC_000004.12:6639827:G:A
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000004.12:g.6639828G>A, NC_000004.11:g.6641555G>A

Select item 14899014163.

rs1489901416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:6640403 (GRCh38)
4:6642130 (GRCh37)
Canonical SPDI:: NC_000004.12:6640402:A:C
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.6640403A>C, NC_000004.11:g.6642130A>C, NM_033296.2:c.-460A>C, NM_001272054.1:c.-460A>C, NM_001272053.1:c.-341A>C

Select item 14897700804.

rs1489770080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:6641961 (GRCh38)
4:6643688 (GRCh37)
Canonical SPDI:: NC_000004.12:6641960:G:A,NC_000004.12:6641960:G:C
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6641961G>A, NC_000004.12:g.6641961G>C, NC_000004.11:g.6643688G>A, NC_000004.11:g.6643688G>C, NM_033296.3:c.*244G>A, NM_033296.3:c.*244G>C, NM_033296.2:c.*244G>A, NM_033296.2:c.*244G>C, NM_001272053.2:c.*244G>A, NM_001272053.2:c.*244G>C, NM_001272053.1:c.*244G>A, NM_001272053.1:c.*244G>C, NM_001272054.1:c.*244G>A, NM_001272054.1:c.*244G>C

Select item 14891819505.

rs1489181950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6640406 (GRCh38)
4:6642133 (GRCh37)
Canonical SPDI:: NC_000004.12:6640405:C:T
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.6640406C>T, NC_000004.11:g.6642133C>T, NM_033296.2:c.-457C>T, NM_001272054.1:c.-457C>T, NM_001272053.1:c.-338C>T

Select item 14888861226.

rs1488886122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:6639495 (GRCh38)
4:6641222 (GRCh37)
Canonical SPDI:: NC_000004.12:6639494:A:T
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.6639495A>T, NC_000004.11:g.6641222A>T

Select item 14886830217.

rs1488683021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6639583 (GRCh38)
4:6641310 (GRCh37)
Canonical SPDI:: NC_000004.12:6639582:C:T
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.6639583C>T, NC_000004.11:g.6641310C>T

Select item 14886491838.

rs1488649183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:6638255 (GRCh38)
4:6639982 (GRCh37)
Canonical SPDI:: NC_000004.12:6638254:A:C
Gene:: LOC124900653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.6638255A>C, NC_000004.11:g.6639982A>C, XR_007058007.1:n.878T>G

Select item 14884202799.

rs1488420279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:6643183 (GRCh38)
4:6644910 (GRCh37)
Canonical SPDI:: NC_000004.12:6643182:T:G
Gene:: MRFAP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.6643183T>G, NC_000004.11:g.6644910T>G

Select item 148674681210.

rs1486746812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6640655 (GRCh38)
4:6642382 (GRCh37)
Canonical SPDI:: NC_000004.12:6640654:C:T
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.6640655C>T, NC_000004.11:g.6642382C>T, NM_033296.2:c.-208C>T, NM_001272054.1:c.-208C>T, NM_001272053.1:c.-89C>T

Select item 148609383111.

rs1486093831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6641627 (GRCh38)
4:6643354 (GRCh37)
Canonical SPDI:: NC_000004.12:6641626:C:T
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6641627C>T, NC_000004.11:g.6643354C>T

Select item 148590067512.

rs1485900675 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:6638751 (GRCh38)
4:6640479 (GRCh37)
Canonical SPDI:: NC_000004.12:6638751:T:TT
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.6638752dup, NC_000004.11:g.6640479dup, XR_007058007.1:n.381dup

Select item 148540312113.

rs1485403121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6639895 (GRCh38)
4:6641622 (GRCh37)
Canonical SPDI:: NC_000004.12:6639894:C:T
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.6639895C>T, NC_000004.11:g.6641622C>T

Select item 148532860914.

rs1485328609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:6642779 (GRCh38)
4:6644506 (GRCh37)
Canonical SPDI:: NC_000004.12:6642778:A:T
Gene:: MRFAP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.6642779A>T, NC_000004.11:g.6644506A>T

Select item 148445949215.

rs1484459492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6642001 (GRCh38)
4:6643728 (GRCh37)
Canonical SPDI:: NC_000004.12:6642000:C:T
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.6642001C>T, NC_000004.11:g.6643728C>T, NM_033296.3:c.*284C>T, NM_033296.2:c.*284C>T, NM_001272053.2:c.*284C>T, NM_001272053.1:c.*284C>T, NM_001272054.1:c.*284C>T

Select item 148405645716.

rs1484056457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6640560 (GRCh38)
4:6642287 (GRCh37)
Canonical SPDI:: NC_000004.12:6640559:G:A
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.6640560G>A, NC_000004.11:g.6642287G>A, NM_033296.2:c.-303G>A, XR_007058007.1:n.62C>T, NM_001272054.1:c.-303G>A, NM_001272053.1:c.-184G>A

Select item 148172334617.

rs1481723346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:6638250 (GRCh38)
4:6639977 (GRCh37)
Canonical SPDI:: NC_000004.12:6638249:G:C
Gene:: LOC124900653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000004.12:g.6638250G>C, NC_000004.11:g.6639977G>C, XR_007058007.1:n.883C>G

Select item 148121711118.

rs1481217111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:6642085 (GRCh38)
4:6643812 (GRCh37)
Canonical SPDI:: NC_000004.12:6642084:G:C
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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.6642085G>C, NC_000004.11:g.6643812G>C, NM_033296.3:c.*368G>C, NM_033296.2:c.*368G>C, NM_001272053.2:c.*368G>C, NM_001272053.1:c.*368G>C, NM_001272054.1:c.*368G>C

Select item 148056499019.

rs1480564990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6639775 (GRCh38)
4:6641502 (GRCh37)
Canonical SPDI:: NC_000004.12:6639774:G:A
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,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_000004.12:g.6639775G>A, NC_000004.11:g.6641502G>A

Select item 148034652920.

rs1480346529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6639303 (GRCh38)
4:6641030 (GRCh37)
Canonical SPDI:: NC_000004.12:6639302:G:A
Gene:: MRFAP1 (Varview), LOC124900653 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.6639303G>A, NC_000004.11:g.6641030G>A

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1559

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity