SNP Links for Nucleotide (Select 161087010) - SNP

Links from Nucleotide

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Select item 14853922121.

rs1485392212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62665490 (GRCh38)
11:62432962 (GRCh37)
Canonical SPDI:: NC_000011.10:62665489:G:A
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.62665490G>A, NC_000011.9:g.62432962G>A, XM_005274232.6:c.-21G>A, XM_005274232.5:c.-21G>A, XM_005274232.4:c.-21G>A, XM_005274232.3:c.-21G>A, XM_005274232.2:c.-21G>A, XM_005274232.1:c.-21G>A, NR_004390.1:n.69G>A

Select item 14812954352.

rs1481295435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:62665531 (GRCh38)
11:62433003 (GRCh37)
Canonical SPDI:: NC_000011.10:62665530:T:A
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62665531T>A, NC_000011.9:g.62433003T>A, XM_005274232.6:c.21T>A, XM_005274232.5:c.21T>A, XM_005274232.4:c.21T>A, XM_005274232.3:c.21T>A, XM_005274232.2:c.21T>A, XM_005274232.1:c.21T>A, NR_004390.1:n.110T>A

Select item 14614520163.

rs1461452016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62665460 (GRCh38)
11:62432932 (GRCh37)
Canonical SPDI:: NC_000011.10:62665459:T:C
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62665460T>C, NC_000011.9:g.62432932T>C, XM_005274232.6:c.-51T>C, XM_005274232.5:c.-51T>C, XM_005274232.4:c.-51T>C, XM_005274232.3:c.-51T>C, XM_005274232.2:c.-51T>C, XM_005274232.1:c.-51T>C, NR_004390.1:n.39T>C

Select item 14611720714.

rs1461172071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62665470 (GRCh38)
11:62432942 (GRCh37)
Canonical SPDI:: NC_000011.10:62665469:G:C
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.62665470G>C, NC_000011.9:g.62432942G>C, XM_005274232.6:c.-41G>C, XM_005274232.5:c.-41G>C, XM_005274232.4:c.-41G>C, XM_005274232.3:c.-41G>C, XM_005274232.2:c.-41G>C, XM_005274232.1:c.-41G>C, NR_004390.1:n.49G>C

Select item 14534120905.

rs1453412090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62665505 (GRCh38)
11:62432977 (GRCh37)
Canonical SPDI:: NC_000011.10:62665504:G:A
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.62665505G>A, NC_000011.9:g.62432977G>A, XM_005274232.6:c.-6G>A, XM_005274232.5:c.-6G>A, XM_005274232.4:c.-6G>A, XM_005274232.3:c.-6G>A, XM_005274232.2:c.-6G>A, XM_005274232.1:c.-6G>A, NR_004390.1:n.84G>A

Select item 14443792456.

rs1444379245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62665555 (GRCh38)
11:62433027 (GRCh37)
Canonical SPDI:: NC_000011.10:62665554:A:C
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62665555A>C, NC_000011.9:g.62433027A>C, XM_005274232.6:c.45A>C, XM_005274232.5:c.45A>C, XM_005274232.4:c.45A>C, XM_005274232.3:c.45A>C, XM_005274232.2:c.45A>C, XM_005274232.1:c.45A>C, NR_004390.1:n.134A>C

Select item 14275293127.

rs1427529312 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>- [Show Flanks]
Chromosome:: 11:62665453 (GRCh38)
11:62432925 (GRCh37)
Canonical SPDI:: NC_000011.10:62665449:GTGGTG:GTG
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGTG=0./0 (ALFA)
-=0.000005/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000106/3 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.62665450GTG[1], NC_000011.9:g.62432922GTG[1], XM_005274232.6:c.-61GTG[1], XM_005274232.5:c.-61GTG[1], XM_005274232.4:c.-61GTG[1], XM_005274232.3:c.-61GTG[1], XM_005274232.2:c.-61GTG[1], XM_005274232.1:c.-61GTG[1], NR_004390.1:n.29GTG[1]

Select item 14178337368.

rs1417833736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62665500 (GRCh38)
11:62432972 (GRCh37)
Canonical SPDI:: NC_000011.10:62665499:C:T
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62665500C>T, NC_000011.9:g.62432972C>T, XM_005274232.6:c.-11C>T, XM_005274232.5:c.-11C>T, XM_005274232.4:c.-11C>T, XM_005274232.3:c.-11C>T, XM_005274232.2:c.-11C>T, XM_005274232.1:c.-11C>T, NR_004390.1:n.79C>T

Select item 14177480289.

rs1417748028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62665561 (GRCh38)
11:62433033 (GRCh37)
Canonical SPDI:: NC_000011.10:62665560:C:T
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62665561C>T, NC_000011.9:g.62433033C>T, XM_005274232.6:c.51C>T, XM_005274232.5:c.51C>T, XM_005274232.4:c.51C>T, XM_005274232.3:c.51C>T, XM_005274232.2:c.51C>T, XM_005274232.1:c.51C>T, NR_004390.1:n.140C>T

Select item 139716337910.

rs1397163379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62665543 (GRCh38)
11:62433015 (GRCh37)
Canonical SPDI:: NC_000011.10:62665542:G:A
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.62665543G>A, NC_000011.9:g.62433015G>A, XM_005274232.6:c.33G>A, XM_005274232.5:c.33G>A, XM_005274232.4:c.33G>A, XM_005274232.3:c.33G>A, XM_005274232.2:c.33G>A, XM_005274232.1:c.33G>A, NR_004390.1:n.122G>A

Select item 139173537711.

rs1391735377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62665445 (GRCh38)
11:62432917 (GRCh37)
Canonical SPDI:: NC_000011.10:62665444:G:C
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62665445G>C, NC_000011.9:g.62432917G>C, XM_005274232.6:c.-66G>C, XM_005274232.5:c.-66G>C, XM_005274232.4:c.-66G>C, XM_005274232.3:c.-66G>C, XM_005274232.2:c.-66G>C, XM_005274232.1:c.-66G>C, NR_004390.1:n.24G>C

Select item 137962475012.

rs1379624750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62665491 (GRCh38)
11:62432963 (GRCh37)
Canonical SPDI:: NC_000011.10:62665490:G:A
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62665491G>A, NC_000011.9:g.62432963G>A, XM_005274232.6:c.-20G>A, XM_005274232.5:c.-20G>A, XM_005274232.4:c.-20G>A, XM_005274232.3:c.-20G>A, XM_005274232.2:c.-20G>A, XM_005274232.1:c.-20G>A, NR_004390.1:n.70G>A

Select item 137701836613.

rs1377018366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62665512 (GRCh38)
11:62432984 (GRCh37)
Canonical SPDI:: NC_000011.10:62665511:T:C
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,intron_variant,initiator_codon_variant,non_coding_transcript_variant,2KB_upstream_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_000011.10:g.62665512T>C, NC_000011.9:g.62432984T>C, XM_005274232.6:c.2T>C, XM_005274232.5:c.2T>C, XM_005274232.4:c.2T>C, XM_005274232.3:c.2T>C, XM_005274232.2:c.2T>C, XM_005274232.1:c.2T>C, NR_004390.1:n.91T>C, XP_005274289.1:p.Met1Thr

Select item 135751080914.

rs1357510809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:62665551 (GRCh38)
11:62433023 (GRCh37)
Canonical SPDI:: NC_000011.10:62665550:C:A,NC_000011.10:62665550:C:T
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62665551C>A, NC_000011.10:g.62665551C>T, NC_000011.9:g.62433023C>A, NC_000011.9:g.62433023C>T, XM_005274232.6:c.41C>A, XM_005274232.6:c.41C>T, XM_005274232.5:c.41C>A, XM_005274232.5:c.41C>T, XM_005274232.4:c.41C>A, XM_005274232.4:c.41C>T, XM_005274232.3:c.41C>A, XM_005274232.3:c.41C>T, XM_005274232.2:c.41C>A, XM_005274232.2:c.41C>T, XM_005274232.1:c.41C>A, XM_005274232.1:c.41C>T, NR_004390.1:n.130C>A, NR_004390.1:n.130C>T, XP_005274289.1:p.Ser14Tyr, XP_005274289.1:p.Ser14Phe

Select item 133697945915.

rs1336979459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62665435 (GRCh38)
11:62432907 (GRCh37)
Canonical SPDI:: NC_000011.10:62665434:G:A
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000011.10:g.62665435G>A, NC_000011.9:g.62432907G>A, XM_005274232.6:c.-76G>A, XM_005274232.5:c.-76G>A, XM_005274232.4:c.-76G>A, XM_005274232.3:c.-76G>A, XM_005274232.2:c.-76G>A, XM_005274232.1:c.-76G>A, NR_004390.1:n.14G>A

Select item 133256514116.

rs1332565141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62665484 (GRCh38)
11:62432956 (GRCh37)
Canonical SPDI:: NC_000011.10:62665483:G:A
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62665484G>A, NC_000011.9:g.62432956G>A, XM_005274232.6:c.-27G>A, XM_005274232.5:c.-27G>A, XM_005274232.4:c.-27G>A, XM_005274232.3:c.-27G>A, XM_005274232.2:c.-27G>A, XM_005274232.1:c.-27G>A, NR_004390.1:n.63G>A

Select item 130746384917.

rs1307463849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62665520 (GRCh38)
11:62432992 (GRCh37)
Canonical SPDI:: NC_000011.10:62665519:G:A
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62665520G>A, NC_000011.9:g.62432992G>A, XM_005274232.6:c.10G>A, XM_005274232.5:c.10G>A, XM_005274232.4:c.10G>A, XM_005274232.3:c.10G>A, XM_005274232.2:c.10G>A, XM_005274232.1:c.10G>A, NR_004390.1:n.99G>A, XP_005274289.1:p.Val4Met

Select item 129834131118.

rs1298341311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62665451 (GRCh38)
11:62432923 (GRCh37)
Canonical SPDI:: NC_000011.10:62665450:T:C
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.62665451T>C, NC_000011.9:g.62432923T>C, XM_005274232.6:c.-60T>C, XM_005274232.5:c.-60T>C, XM_005274232.4:c.-60T>C, XM_005274232.3:c.-60T>C, XM_005274232.2:c.-60T>C, XM_005274232.1:c.-60T>C, NR_004390.1:n.30T>C

Select item 129665866619.

rs1296658666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:62665506 (GRCh38)
11:62432978 (GRCh37)
Canonical SPDI:: NC_000011.10:62665505:G:A,NC_000011.10:62665505:G:T
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62665506G>A, NC_000011.10:g.62665506G>T, NC_000011.9:g.62432978G>A, NC_000011.9:g.62432978G>T, XM_005274232.6:c.-5G>A, XM_005274232.6:c.-5G>T, XM_005274232.5:c.-5G>A, XM_005274232.5:c.-5G>T, XM_005274232.4:c.-5G>A, XM_005274232.4:c.-5G>T, XM_005274232.3:c.-5G>A, XM_005274232.3:c.-5G>T, XM_005274232.2:c.-5G>A, XM_005274232.2:c.-5G>T, XM_005274232.1:c.-5G>A, XM_005274232.1:c.-5G>T, NR_004390.1:n.85G>A, NR_004390.1:n.85G>T

Select item 127766919920.

rs1277669199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62665567 (GRCh38)
11:62433039 (GRCh37)
Canonical SPDI:: NC_000011.10:62665566:A:G
Gene:: LBHD1 (Varview), SNORA57 (Varview), CSKMT (Varview), C11orf98 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.62665567A>G, NC_000011.9:g.62433039A>G, XM_005274232.6:c.57A>G, XM_005274232.5:c.57A>G, XM_005274232.4:c.57A>G, XM_005274232.3:c.57A>G, XM_005274232.2:c.57A>G, XM_005274232.1:c.57A>G, NR_004390.1:n.146A>G

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