SNP Links for Gene (Select 1439) - SNP

Links from Gene

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Select item 14915789531.

rs1491578953 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:36932434 (GRCh38)
22:37328476 (GRCh37)
Canonical SPDI:: NC_000022.11:36932433:CA:
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03499/415 (ALFA)
-=0.00471/133 (TOMMO)
-=0.02724/101 (TWINSUK)
-=0.0384/148 (ALSPAC)
HGVS:: NC_000022.11:g.36932434_36932435del, NC_000022.10:g.37328476_37328477del, NG_008040.1:g.23802_23803del

Select item 14915312972.

rs1491531297 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:36932455 (GRCh38)
22:37328497 (GRCh37)
Canonical SPDI:: NC_000022.11:36932453:ATA:A
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000612/10 (ALFA)
-=0.000031/4 (GnomAD)
-=0.000567/16 (TOMMO)
-=0.002183/4 (Korea1K)
HGVS:: NC_000022.11:g.36932455_36932456del, NC_000022.10:g.37328497_37328498del, NG_008040.1:g.23823_23824del

Select item 14915084433.

rs1491508443 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:36915421 (GRCh38)
22:37311464 (GRCh37)
Canonical SPDI:: NC_000022.11:36915421::A
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00318/14 (ALFA)
A=0.000071/2 (TOMMO)
A=0.000989/101 (GnomAD)
HGVS:: NC_000022.11:g.36915421_36915422insA, NC_000022.10:g.37311463_37311464insA, NG_008040.1:g.6789_6790insA

Select item 14914293644.

rs1491429364 has merged into rs35022648 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT [Show Flanks]
Chromosome:: 22:36915436 (GRCh38)
22:37311478 (GRCh37)
Canonical SPDI:: NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000022.11:36915422:TATATATATATATATATAT:TATATATATATATATATATATATATATATATAT
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
TA=0.4065/2036 (1000Genomes)
HGVS:: NC_000022.11:g.36915424AT[6], NC_000022.11:g.36915424AT[7], NC_000022.11:g.36915424AT[8], NC_000022.11:g.36915424AT[10], NC_000022.11:g.36915424AT[11], NC_000022.11:g.36915424AT[12], NC_000022.11:g.36915424AT[13], NC_000022.11:g.36915424AT[14], NC_000022.11:g.36915424AT[15], NC_000022.11:g.36915424AT[16], NC_000022.10:g.37311466AT[6], NC_000022.10:g.37311466AT[7], NC_000022.10:g.37311466AT[8], NC_000022.10:g.37311466AT[10], NC_000022.10:g.37311466AT[11], NC_000022.10:g.37311466AT[12], NC_000022.10:g.37311466AT[13], NC_000022.10:g.37311466AT[14], NC_000022.10:g.37311466AT[15], NC_000022.10:g.37311466AT[16], NG_008040.1:g.6792AT[6], NG_008040.1:g.6792AT[7], NG_008040.1:g.6792AT[8], NG_008040.1:g.6792AT[10], NG_008040.1:g.6792AT[11], NG_008040.1:g.6792AT[12], NG_008040.1:g.6792AT[13], NG_008040.1:g.6792AT[14], NG_008040.1:g.6792AT[15], NG_008040.1:g.6792AT[16]

Select item 14912796675.

rs1491279667 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:36914389 (GRCh38)
22:37310431 (GRCh37)
Canonical SPDI:: NC_000022.11:36914388:AT:
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00096/27 (TOMMO)
HGVS:: NC_000022.11:g.36914389_36914390del, NC_000022.10:g.37310431_37310432del, NG_008040.1:g.5757_5758del

Select item 14911689696.

rs1491168969 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAG [Show Flanks]
Chromosome:: 22:36932454 (GRCh38)
22:37328497 (GRCh37)
Canonical SPDI:: NC_000022.11:36932454::AAG
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAG=0./0 (ALFA)
AAG=0.000037/5 (GnomAD)
HGVS:: NC_000022.11:g.36932454_36932455insAAG, NC_000022.10:g.37328496_37328497insAAG, NG_008040.1:g.23822_23823insAAG

Select item 14910851417.

rs1491085141 has merged into rs76759877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 22:36917933 (GRCh38)
22:37313975 (GRCh37)
Canonical SPDI:: NC_000022.11:36917922:AAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:36917922:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:36917922:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:36917922:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
-=0.12792/493 (ALSPAC)
-=0.13592/504 (TWINSUK)
-=0.23364/1103 (1000Genomes)
HGVS:: NC_000022.11:g.36917933_36917934del, NC_000022.11:g.36917934del, NC_000022.11:g.36917934dup, NC_000022.11:g.36917933_36917934dup, NC_000022.10:g.37313975_37313976del, NC_000022.10:g.37313976del, NC_000022.10:g.37313976dup, NC_000022.10:g.37313975_37313976dup, NG_008040.1:g.9301_9302del, NG_008040.1:g.9302del, NG_008040.1:g.9302dup, NG_008040.1:g.9301_9302dup

Select item 14909696628.

rs1490969662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:36932057 (GRCh38)
22:37328099 (GRCh37)
Canonical SPDI:: NC_000022.11:36932056:G:A
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.36932057G>A, NC_000022.10:g.37328099G>A, NG_008040.1:g.23425G>A

Select item 14909616969.

rs1490961696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:36938030 (GRCh38)
22:37334072 (GRCh37)
Canonical SPDI:: NC_000022.11:36938029:C:A,NC_000022.11:36938029:C:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.36938030C>A, NC_000022.11:g.36938030C>T, NC_000022.10:g.37334072C>A, NC_000022.10:g.37334072C>T, NG_008040.1:g.29398C>A, NG_008040.1:g.29398C>T, NM_000395.3:c.2222C>A, NM_000395.3:c.2222C>T, NM_000395.2:c.2222C>A, NM_000395.2:c.2222C>T, NM_001410827.1:c.2240C>A, NM_001410827.1:c.2240C>T, XM_005261340.4:c.2240C>A, XM_005261340.4:c.2240C>T, XM_011529903.3:c.2276C>A, XM_011529903.3:c.2276C>T, XM_011529903.2:c.2276C>A, XM_011529903.2:c.2276C>T, XM_011529903.1:c.2276C>A, XM_011529903.1:c.2276C>T, XM_011529904.3:c.2258C>A, XM_011529904.3:c.2258C>T, XM_011529904.2:c.2258C>A, XM_011529904.2:c.2258C>T, XM_011529904.1:c.2258C>A, XM_011529904.1:c.2258C>T, XM_047441149.1:c.*582C>A, XM_047441149.1:c.*582C>T, XM_047441150.1:c.*582C>A, XM_047441150.1:c.*582C>T, XM_047441148.1:c.1889C>A, XM_047441148.1:c.1889C>T, NP_000386.1:p.Thr741Asn, NP_000386.1:p.Thr741Ile, XP_005261397.1:p.Thr747Asn, XP_005261397.1:p.Thr747Ile, XP_011528205.1:p.Thr759Asn, XP_011528205.1:p.Thr759Ile, XP_011528206.1:p.Thr753Asn, XP_011528206.1:p.Thr753Ile, XP_047297104.1:p.Thr630Asn, XP_047297104.1:p.Thr630Ile

Select item 149073278410.

rs1490732784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:36937458 (GRCh38)
22:37333500 (GRCh37)
Canonical SPDI:: NC_000022.11:36937457:T:G
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36937458T>G, NC_000022.10:g.37333500T>G, NG_008040.1:g.28826T>G, NM_000395.3:c.1650T>G, NM_000395.2:c.1650T>G, NM_001410827.1:c.1668T>G, XM_005261340.4:c.1668T>G, XM_011529903.3:c.1704T>G, XM_011529903.2:c.1704T>G, XM_011529903.1:c.1704T>G, XM_011529904.3:c.1686T>G, XM_011529904.2:c.1686T>G, XM_011529904.1:c.1686T>G, XM_047441149.1:c.*10T>G, XM_047441150.1:c.*10T>G, XM_047441148.1:c.1317T>G

Select item 149070167111.

rs1490701671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36918868 (GRCh38)
22:37314910 (GRCh37)
Canonical SPDI:: NC_000022.11:36918867:C:T
Gene:: CSF2RB (Varview), LOC105373023 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000022.11:g.36918868C>T, NC_000022.10:g.37314910C>T, NG_008040.1:g.10236C>T, XR_938230.2:n.266G>A, XR_938230.1:n.302G>A

Select item 149068622412.

rs1490686224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36929577 (GRCh38)
22:37325619 (GRCh37)
Canonical SPDI:: NC_000022.11:36929576:C:T
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.36929577C>T, NC_000022.10:g.37325619C>T, NG_008040.1:g.20945C>T

Select item 149058541213.

rs1490585412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:36918362 (GRCh38)
22:37314404 (GRCh37)
Canonical SPDI:: NC_000022.11:36918361:C:G
Gene:: CSF2RB (Varview), LOC105373023 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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_000022.11:g.36918362C>G, NC_000022.10:g.37314404C>G, NG_008040.1:g.9730C>G

Select item 149056886814.

rs1490568868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:36937735 (GRCh38)
22:37333777 (GRCh37)
Canonical SPDI:: NC_000022.11:36937734:G:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.36937735G>T, NC_000022.10:g.37333777G>T, NG_008040.1:g.29103G>T, NM_000395.3:c.1927G>T, NM_000395.2:c.1927G>T, NM_001410827.1:c.1945G>T, XM_005261340.4:c.1945G>T, XM_011529903.3:c.1981G>T, XM_011529903.2:c.1981G>T, XM_011529903.1:c.1981G>T, XM_011529904.3:c.1963G>T, XM_011529904.2:c.1963G>T, XM_011529904.1:c.1963G>T, XM_047441149.1:c.*287G>T, XM_047441150.1:c.*287G>T, XM_047441148.1:c.1594G>T, NP_000386.1:p.Ala643Ser, XP_005261397.1:p.Ala649Ser, XP_011528205.1:p.Ala661Ser, XP_011528206.1:p.Ala655Ser, XP_047297104.1:p.Ala532Ser

Select item 149056075215.

rs1490560752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:36922155 (GRCh38)
22:37318197 (GRCh37)
Canonical SPDI:: NC_000022.11:36922154:A:G
Gene:: CSF2RB (Varview), LOC105373023 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000022.11:g.36922155A>G, NC_000022.10:g.37318197A>G, NG_008040.1:g.13523A>G, NM_000395.3:c.-53A>G, NM_000395.2:c.-53A>G, NM_001410827.1:c.-53A>G, XM_005261340.4:c.-53A>G, XM_011529903.3:c.-53A>G, XM_011529903.2:c.-53A>G, XM_011529903.1:c.-53A>G, XM_011529904.3:c.-53A>G, XM_011529904.2:c.-53A>G, XM_011529904.1:c.-53A>G, XM_047441149.1:c.-53A>G, XM_047441150.1:c.-53A>G

Select item 149040349816.

rs1490403498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:36925542 (GRCh38)
22:37321584 (GRCh37)
Canonical SPDI:: NC_000022.11:36925541:T:C
Gene:: CSF2RB (Varview), LOC105373023 (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_000022.11:g.36925542T>C, NC_000022.10:g.37321584T>C, NG_008040.1:g.16910T>C

Select item 149038582817.

rs1490385828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 22:36940362 (GRCh38)
22:37336404 (GRCh37)
Canonical SPDI:: NC_000022.11:36940361:A:C,NC_000022.11:36940361:A:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000021/3 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000022.11:g.36940362A>C, NC_000022.11:g.36940362A>T, NC_000022.10:g.37336404A>C, NC_000022.10:g.37336404A>T, NG_008040.1:g.31730A>C, NG_008040.1:g.31730A>T, NM_000395.3:c.*1860A>C, NM_000395.3:c.*1860A>T, NM_000395.2:c.*1860A>C, NM_000395.2:c.*1860A>T, NM_001410827.1:c.*1860A>C, NM_001410827.1:c.*1860A>T, XM_005261340.4:c.*1860A>C, XM_005261340.4:c.*1860A>T, XM_011529903.3:c.*1860A>C, XM_011529903.3:c.*1860A>T, XM_011529903.2:c.*1860A>C, XM_011529903.2:c.*1860A>T, XM_011529903.1:c.*1860A>C, XM_011529903.1:c.*1860A>T, XM_011529904.3:c.*1860A>C, XM_011529904.3:c.*1860A>T, XM_011529904.2:c.*1860A>C, XM_011529904.2:c.*1860A>T, XM_011529904.1:c.*1860A>C, XM_011529904.1:c.*1860A>T, XM_047441149.1:c.*2914A>C, XM_047441149.1:c.*2914A>T, XM_047441150.1:c.*2914A>C, XM_047441150.1:c.*2914A>T, XM_047441148.1:c.*1860A>C, XM_047441148.1:c.*1860A>T

Select item 149022120518.

rs1490221205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:36940876 (GRCh38)
22:37336918 (GRCh37)
Canonical SPDI:: NC_000022.11:36940875:T:A
Gene:: CSF2RB (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000022.11:g.36940876T>A, NC_000022.10:g.37336918T>A, NG_008040.1:g.32244T>A

Select item 149016903519.

rs1490169035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:36933436 (GRCh38)
22:37329478 (GRCh37)
Canonical SPDI:: NC_000022.11:36933435:G:T
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000022.11:g.36933436G>T, NC_000022.10:g.37329478G>T, NG_008040.1:g.24804G>T

Select item 149000753220.

rs1490007532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:36933774 (GRCh38)
22:37329816 (GRCh37)
Canonical SPDI:: NC_000022.11:36933773:A:T
Gene:: CSF2RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.36933774A>T, NC_000022.10:g.37329816A>T, NG_008040.1:g.25142A>T

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