SNP Links for Gene (Select 692108) - SNP

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Items: 1 to 20 of 589

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Select item 14896490791.

rs1489649079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:46763244 (GRCh38)
11:46784794 (GRCh37)
Canonical SPDI:: NC_000011.10:46763243:A:C,NC_000011.10:46763243:A:T
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000566/9 (TOMMO)
C=0.000684/2 (KOREAN)
HGVS:: NC_000011.10:g.46763244A>C, NC_000011.10:g.46763244A>T, NC_000011.9:g.46784794A>C, NC_000011.9:g.46784794A>T, NG_029924.2:g.88036T>G, NG_029924.2:g.88036T>A, NG_029924.1:g.88066T>G, NG_029924.1:g.88066T>A

Select item 14852772082.

rs1485277208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46763649 (GRCh38)
11:46785199 (GRCh37)
Canonical SPDI:: NC_000011.10:46763648:G:A
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.46763649G>A, NC_000011.9:g.46785199G>A, NG_029924.2:g.87631C>T, NG_029924.1:g.87661C>T

Select item 14847239863.

rs1484723986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:46763134 (GRCh38)
11:46784684 (GRCh37)
Canonical SPDI:: NC_000011.10:46763133:T:C,NC_000011.10:46763133:T:G
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46763134T>C, NC_000011.10:g.46763134T>G, NC_000011.9:g.46784684T>C, NC_000011.9:g.46784684T>G, NG_029924.2:g.88146A>G, NG_029924.2:g.88146A>C, NG_029924.1:g.88176A>G, NG_029924.1:g.88176A>C, NM_001008938.4:c.3733A>G, NM_001008938.4:c.3733A>C, NM_001008938.3:c.3733A>G, NM_001008938.3:c.3733A>C, NM_014756.4:c.3733A>G, NM_014756.4:c.3733A>C, NM_014756.3:c.3733A>G, NM_014756.3:c.3733A>C, NP_001008938.1:p.Ile1245Val, NP_001008938.1:p.Ile1245Leu, NP_055571.2:p.Ile1245Val, NP_055571.2:p.Ile1245Leu

Select item 14839815544.

rs1483981554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:46762708 (GRCh38)
11:46784258 (GRCh37)
Canonical SPDI:: NC_000011.10:46762707:T:G
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.46762708T>G, NC_000011.9:g.46784258T>G, NG_029924.2:g.88572A>C, NG_029924.1:g.88602A>C, NM_001008938.4:c.3946A>C, NM_001008938.3:c.3946A>C, NM_014756.4:c.3946A>C, NM_014756.3:c.3946A>C, NP_001008938.1:p.Met1316Leu, NP_055571.2:p.Met1316Leu

Select item 14837443785.

rs1483744378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:46762541 (GRCh38)
11:46784091 (GRCh37)
Canonical SPDI:: NC_000011.10:46762540:G:T
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46762541G>T, NC_000011.9:g.46784091G>T, NG_029924.2:g.88739C>A, NG_029924.1:g.88769C>A

Select item 14833110456.

rs1483311045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:46762442 (GRCh38)
11:46783992 (GRCh37)
Canonical SPDI:: NC_000011.10:46762441:T:C
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46762442T>C, NC_000011.9:g.46783992T>C, NG_029924.2:g.88838A>G, NG_029924.1:g.88868A>G, NR_003056.1:n.58A>G

Select item 14827537227.

rs1482753722 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:46761977 (GRCh38)
11:46783527 (GRCh37)
Canonical SPDI:: NC_000011.10:46761975:ACA:A
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46761977_46761978del, NC_000011.9:g.46783527_46783528del, NG_029924.2:g.89303_89304del, NG_029924.1:g.89333_89334del

Select item 14822636828.

rs1482263682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:46762856 (GRCh38)
11:46784406 (GRCh37)
Canonical SPDI:: NC_000011.10:46762855:A:G
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.46762856A>G, NC_000011.9:g.46784406A>G, NG_029924.2:g.88424T>C, NG_029924.1:g.88454T>C

Select item 14771468079.

rs1477146807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:46762514 (GRCh38)
11:46784064 (GRCh37)
Canonical SPDI:: NC_000011.10:46762513:G:C
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.46762514G>C, NC_000011.9:g.46784064G>C, NG_029924.2:g.88766C>G, NG_029924.1:g.88796C>G

Select item 147575141510.

rs1475751415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:46763590 (GRCh38)
11:46785140 (GRCh37)
Canonical SPDI:: NC_000011.10:46763589:A:G
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46763590A>G, NC_000011.9:g.46785140A>G, NG_029924.2:g.87690T>C, NG_029924.1:g.87720T>C, NM_001008938.4:c.3578T>C, NM_001008938.3:c.3578T>C, NM_014756.4:c.3578T>C, NM_014756.3:c.3578T>C, NP_001008938.1:p.Ile1193Thr, NP_055571.2:p.Ile1193Thr

Select item 147437234911.

rs1474372349 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:46763008 (GRCh38)
11:46784558 (GRCh37)
Canonical SPDI:: NC_000011.10:46763007:CT:
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.46763008_46763009del, NC_000011.9:g.46784558_46784559del, NG_029924.2:g.88271_88272del, NG_029924.1:g.88301_88302del, NM_001008938.4:c.3858_3859del, NM_001008938.3:c.3858_3859del, NM_014756.4:c.3858_3859del, NM_014756.3:c.3858_3859del, NP_001008938.1:p.Glu1286fs, NP_055571.2:p.Glu1286fs

Select item 147074933612.

rs1470749336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:46763570 (GRCh38)
11:46785120 (GRCh37)
Canonical SPDI:: NC_000011.10:46763569:T:A,NC_000011.10:46763569:T:C
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_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)
A=0.00006/1 (TOMMO)
HGVS:: NC_000011.10:g.46763570T>A, NC_000011.10:g.46763570T>C, NC_000011.9:g.46785120T>A, NC_000011.9:g.46785120T>C, NG_029924.2:g.87710A>T, NG_029924.2:g.87710A>G, NG_029924.1:g.87740A>T, NG_029924.1:g.87740A>G, NM_001008938.4:c.3598A>T, NM_001008938.4:c.3598A>G, NM_001008938.3:c.3598A>T, NM_001008938.3:c.3598A>G, NM_014756.4:c.3598A>T, NM_014756.4:c.3598A>G, NM_014756.3:c.3598A>T, NM_014756.3:c.3598A>G, NP_001008938.1:p.Met1200Leu, NP_001008938.1:p.Met1200Val, NP_055571.2:p.Met1200Leu, NP_055571.2:p.Met1200Val

Select item 146810905213.

rs1468109052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:46764376 (GRCh38)
11:46785926 (GRCh37)
Canonical SPDI:: NC_000011.10:46764375:T:C
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46764376T>C, NC_000011.9:g.46785926T>C, NG_029924.2:g.86904A>G, NG_029924.1:g.86934A>G

Select item 146708774014.

rs1467087740 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:46761915 (GRCh38)
11:46783465 (GRCh37)
Canonical SPDI:: NC_000011.10:46761914:A:
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.46761915del, NC_000011.9:g.46783465del, NG_029924.2:g.89365del, NG_029924.1:g.89395del

Select item 146419133315.

rs1464191333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46764284 (GRCh38)
11:46785834 (GRCh37)
Canonical SPDI:: NC_000011.10:46764283:G:A
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.46764284G>A, NC_000011.9:g.46785834G>A, NG_029924.2:g.86996C>T, NG_029924.1:g.87026C>T

Select item 146414995216.

rs1464149952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:46762876 (GRCh38)
11:46784426 (GRCh37)
Canonical SPDI:: NC_000011.10:46762875:C:A,NC_000011.10:46762875:C:T
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46762876C>A, NC_000011.10:g.46762876C>T, NC_000011.9:g.46784426C>A, NC_000011.9:g.46784426C>T, NG_029924.2:g.88404G>T, NG_029924.2:g.88404G>A, NG_029924.1:g.88434G>T, NG_029924.1:g.88434G>A

Select item 146357208417.

rs1463572084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:46764117 (GRCh38)
11:46785667 (GRCh37)
Canonical SPDI:: NC_000011.10:46764116:C:T
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.46764117C>T, NC_000011.9:g.46785667C>T, NG_029924.2:g.87163G>A, NG_029924.1:g.87193G>A

Select item 146125209818.

rs1461252098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:46764262 (GRCh38)
11:46785812 (GRCh37)
Canonical SPDI:: NC_000011.10:46764261:A:G
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.46764262A>G, NC_000011.9:g.46785812A>G, NG_029924.2:g.87018T>C, NG_029924.1:g.87048T>C

Select item 146066822419.

rs1460668224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:46762745 (GRCh38)
11:46784295 (GRCh37)
Canonical SPDI:: NC_000011.10:46762744:A:T
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46762745A>T, NC_000011.9:g.46784295A>T, NG_029924.2:g.88535T>A, NG_029924.1:g.88565T>A, NM_001008938.4:c.3909T>A, NM_001008938.3:c.3909T>A, NM_014756.4:c.3909T>A, NM_014756.3:c.3909T>A, NP_001008938.1:p.Asp1303Glu, NP_055571.2:p.Asp1303Glu

Select item 145960316420.

rs1459603164 has merged into rs112376106 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 11:46764156 (GRCh38)
11:46785706 (GRCh37)
Canonical SPDI:: NC_000011.10:46764155:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:46764155:AAAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: CKAP5 (Varview), SNORD67 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0.000436/8 (ALFA)
-=0.003438/910 (TOPMED)
-=0.014023/235 (TOMMO)
HGVS:: NC_000011.10:g.46764167del, NC_000011.10:g.46764167dup, NC_000011.9:g.46785717del, NC_000011.9:g.46785717dup, NG_029924.2:g.87124del, NG_029924.2:g.87124dup, NG_029924.1:g.87154del, NG_029924.1:g.87154dup

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