SNP Links for Gene (Select 26504) - SNP

Links from Gene

Items: 1 to 20 of 12222

<< First< Prev

Page of 612

Next >Last >>

Select item 14912059291.

rs1491205929 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:96780996 (GRCh38)
2:97446733 (GRCh37)
Canonical SPDI:: NC_000002.12:96780995:TG:
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.96780996_96780997del, NC_000002.11:g.97446733_97446734del, NG_016608.1:g.25095_25096del

Select item 14911795542.

rs1491179554 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 2:96806507 (GRCh38)
2:97472245 (GRCh37)
Canonical SPDI:: NC_000002.12:96806507:C:CGC
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CG=0.000004/1 (TOPMED)
CG=0.000015/1 (GnomAD)
HGVS:: NC_000002.12:g.96806508_96806509insGC, NC_000002.11:g.97472245_97472246insGC, NG_016608.1:g.50607_50608insGC

Select item 14911364023.

rs1491136402 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTA
Chromosome:: no mapping
Canonical SPDI:

Select item 14911216164.

rs1491121616 has merged into rs1553479692 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 2:96806545 (GRCh38)
2:97472282 (GRCh37)
Canonical SPDI:: NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGCGC=0./0 (ALFA)
GC=0.13188/489 (TWINSUK)
GC=0.13441/518 (ALSPAC)
HGVS:: NC_000002.12:g.96806537GC[4], NC_000002.12:g.96806537GC[5], NC_000002.12:g.96806537GC[6], NC_000002.12:g.96806537GC[7], NC_000002.12:g.96806537GC[8], NC_000002.12:g.96806537GC[10], NC_000002.12:g.96806537GC[11], NC_000002.12:g.96806537GC[12], NC_000002.12:g.96806537GC[13], NC_000002.12:g.96806537GC[14], NC_000002.12:g.96806537GC[15], NC_000002.12:g.96806537GC[16], NC_000002.11:g.97472274GC[4], NC_000002.11:g.97472274GC[5], NC_000002.11:g.97472274GC[6], NC_000002.11:g.97472274GC[7], NC_000002.11:g.97472274GC[8], NC_000002.11:g.97472274GC[10], NC_000002.11:g.97472274GC[11], NC_000002.11:g.97472274GC[12], NC_000002.11:g.97472274GC[13], NC_000002.11:g.97472274GC[14], NC_000002.11:g.97472274GC[15], NC_000002.11:g.97472274GC[16], NG_016608.1:g.50636GC[4], NG_016608.1:g.50636GC[5], NG_016608.1:g.50636GC[6], NG_016608.1:g.50636GC[7], NG_016608.1:g.50636GC[8], NG_016608.1:g.50636GC[10], NG_016608.1:g.50636GC[11], NG_016608.1:g.50636GC[12], NG_016608.1:g.50636GC[13], NG_016608.1:g.50636GC[14], NG_016608.1:g.50636GC[15], NG_016608.1:g.50636GC[16]

Select item 14910613825.

rs1491061382 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:96805440 (GRCh38)
2:97471177 (GRCh37)
Canonical SPDI:: NC_000002.12:96805438:TAT:T
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000321/39 (GnomAD)
-=0.005576/93 (TOMMO)
-=0.010989/20 (Korea1K)
HGVS:: NC_000002.12:g.96805440_96805441del, NC_000002.11:g.97471177_97471178del, NG_016608.1:g.49539_49540del

Select item 14910002546.

rs1491000254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:96796263 (GRCh38)
2:97462000 (GRCh37)
Canonical SPDI:: NC_000002.12:96796262:G:T
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.96796263G>T, NC_000002.11:g.97462000G>T, NG_016608.1:g.40362G>T

Select item 14909798077.

rs1490979807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:96776435 (GRCh38)
2:97442172 (GRCh37)
Canonical SPDI:: NC_000002.12:96776434:A:G
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96776435A>G, NC_000002.11:g.97442172A>G, NG_016608.1:g.20534A>G

Select item 14909745808.

rs1490974580 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:96793960 (GRCh38)
2:97459697 (GRCh37)
Canonical SPDI:: NC_000002.12:96793956:GAGAG:GAG
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.96793958AG[1], NC_000002.11:g.97459695AG[1], NG_016608.1:g.38057AG[1]

Select item 14909229329.

rs1490922932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:96797029 (GRCh38)
2:97462766 (GRCh37)
Canonical SPDI:: NC_000002.12:96797028:A:G
Gene:: CNNM4 (Varview), MIR3127 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96797029A>G, NC_000002.11:g.97462766A>G, NG_016608.1:g.41128A>G, NM_020184.4:c.1420A>G, NM_020184.3:c.1420A>G, XM_005263915.5:c.1420A>G, XM_005263915.4:c.1420A>G, XM_005263915.3:c.1420A>G, XM_005263915.2:c.1420A>G, XM_005263915.1:c.1420A>G, XM_005263914.5:c.1420A>G, XM_005263914.4:c.1420A>G, XM_005263914.3:c.1420A>G, XM_005263914.2:c.1420A>G, XM_005263914.1:c.1420A>G, XM_011510956.4:c.*23A>G, XM_011510956.3:c.*23A>G, XM_011510956.2:c.*23A>G, XM_011510956.1:c.*23A>G, XM_017003799.2:c.-120A>G, XM_017003799.1:c.-120A>G, XM_047443911.1:c.1420A>G, XM_047443912.1:c.1420A>G, XR_007071513.1:n.1518A>G, NP_064569.3:p.Ile474Val, XP_005263972.1:p.Ile474Val, XP_005263971.1:p.Ile474Val, XP_047299867.1:p.Ile474Val, XP_047299868.1:p.Ile474Val

Select item 149091570310.

rs1490915703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:96760065 (GRCh38)
2:97425802 (GRCh37)
Canonical SPDI:: NC_000002.12:96760064:A:C
Gene:: CNNM4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.96760065A>C, NC_000002.11:g.97425802A>C, NG_016608.1:g.4164A>C

Select item 149075975111.

rs1490759751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:96807080 (GRCh38)
2:97472817 (GRCh37)
Canonical SPDI:: NC_000002.12:96807079:G:A
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.96807080G>A, NC_000002.11:g.97472817G>A, NG_016608.1:g.51179G>A

Select item 149069193312.

rs1490691933 has merged into rs1198986708 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:96769577 (GRCh38)
2:97435314 (GRCh37)
Canonical SPDI:: NC_000002.12:96769563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:96769563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:96769563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:96769563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:96769563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:96769563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:96769563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.96769577_96769580del, NC_000002.12:g.96769578_96769580del, NC_000002.12:g.96769579_96769580del, NC_000002.12:g.96769580del, NC_000002.12:g.96769580dup, NC_000002.12:g.96769579_96769580dup, NC_000002.12:g.96769578_96769580dup, NC_000002.11:g.97435314_97435317del, NC_000002.11:g.97435315_97435317del, NC_000002.11:g.97435316_97435317del, NC_000002.11:g.97435317del, NC_000002.11:g.97435317dup, NC_000002.11:g.97435316_97435317dup, NC_000002.11:g.97435315_97435317dup, NG_016608.1:g.13676_13679del, NG_016608.1:g.13677_13679del, NG_016608.1:g.13678_13679del, NG_016608.1:g.13679del, NG_016608.1:g.13679dup, NG_016608.1:g.13678_13679dup, NG_016608.1:g.13677_13679dup

Select item 149060259813.

rs1490602598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:96785712 (GRCh38)
2:97451449 (GRCh37)
Canonical SPDI:: NC_000002.12:96785711:G:T
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.96785712G>T, NC_000002.11:g.97451449G>T, NG_016608.1:g.29811G>T

Select item 149057378014.

rs1490573780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96801486 (GRCh38)
2:97467223 (GRCh37)
Canonical SPDI:: NC_000002.12:96801485:C:T
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000002.12:g.96801486C>T, NC_000002.11:g.97467223C>T, NG_016608.1:g.45585C>T

Select item 149043398415.

rs1490433984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96797624 (GRCh38)
2:97463361 (GRCh37)
Canonical SPDI:: NC_000002.12:96797623:C:T
Gene:: CNNM4 (Varview), MIR3127 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96797624C>T, NC_000002.11:g.97463361C>T, NG_016608.1:g.41723C>T, NM_020184.4:c.1658C>T, NM_020184.3:c.1658C>T, XM_005263915.5:c.1658C>T, XM_005263915.4:c.1658C>T, XM_005263915.3:c.1658C>T, XM_005263915.2:c.1658C>T, XM_005263915.1:c.1658C>T, XM_005263914.5:c.1658C>T, XM_005263914.4:c.1658C>T, XM_005263914.3:c.1658C>T, XM_005263914.2:c.1658C>T, XM_005263914.1:c.1658C>T, XM_017003799.2:c.119C>T, XM_017003799.1:c.119C>T, XM_047443911.1:c.1658C>T, XM_047443912.1:c.1658C>T, XR_007071513.1:n.1756C>T, NP_064569.3:p.Ala553Val, XP_005263972.1:p.Ala553Val, XP_005263971.1:p.Ala553Val, XP_016859288.1:p.Ala40Val, XP_047299867.1:p.Ala553Val, XP_047299868.1:p.Ala553Val

Select item 149042645916.

rs1490426459 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:96792701 (GRCh38)
2:97458438 (GRCh37)
Canonical SPDI:: NC_000002.12:96792700:GG:G
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.96792702del, NC_000002.11:g.97458439del, NG_016608.1:g.36801del

Select item 149038238917.

rs1490382389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:96777864 (GRCh38)
2:97443601 (GRCh37)
Canonical SPDI:: NC_000002.12:96777863:C:G
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.96777864C>G, NC_000002.11:g.97443601C>G, NG_016608.1:g.21963C>G

Select item 149036796618.

rs1490367966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:96810904 (GRCh38)
2:97476641 (GRCh37)
Canonical SPDI:: NC_000002.12:96810903:C:A
Gene:: CNNM4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96810904C>A, NC_000002.11:g.97476641C>A, NG_016608.1:g.55003C>A, NM_020184.4:c.*1387C>A, NM_020184.3:c.*1387C>A, XM_005263915.5:c.*1472C>A, XM_005263915.4:c.*1472C>A, XM_005263915.3:c.*1472C>A, XM_005263915.2:c.*1472C>A, XM_005263915.1:c.*1472C>A, XM_005263914.5:c.*1387C>A, XM_005263914.4:c.*1387C>A, XM_005263914.3:c.*1387C>A, XM_005263914.2:c.*1387C>A, XM_005263914.1:c.*1387C>A, XM_017003799.2:c.*1387C>A, XM_017003799.1:c.*1387C>A, XM_047443911.1:c.*1472C>A, XM_047443912.1:c.*1515C>A

Select item 149028513019.

rs1490285130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:96777645 (GRCh38)
2:97443382 (GRCh37)
Canonical SPDI:: NC_000002.12:96777644:C:A,NC_000002.12:96777644:C:T
Gene:: CNNM4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.96777645C>A, NC_000002.12:g.96777645C>T, NC_000002.11:g.97443382C>A, NC_000002.11:g.97443382C>T, NG_016608.1:g.21744C>A, NG_016608.1:g.21744C>T

Select item 149026881820.

rs1490268818 has merged into rs958617333 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAAA>-,ACAAAAACAAAA [Show Flanks]
Chromosome:: 2:96807548 (GRCh38)
2:97473285 (GRCh37)
Canonical SPDI:: NC_000002.12:96807531:AAAAACAAAAACAAAAACAAAA:AAAAACAAAAACAAAA,NC_000002.12:96807531:AAAAACAAAAACAAAAACAAAA:AAAAACAAAAACAAAAACAAAAACAAAA
Gene:: CNNM4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAACAAAAACAAAAACAAAAACAAAA=0.000162/3 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.96807536ACAAAA[2], NC_000002.12:g.96807536ACAAAA[4], NC_000002.11:g.97473273ACAAAA[2], NC_000002.11:g.97473273ACAAAA[4], NG_016608.1:g.51635ACAAAA[2], NG_016608.1:g.51635ACAAAA[4]

<< First< Prev

Page of 612

Next >Last >>

dbSNP

Result Filters

Clinical Significance

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 12222

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity