SNP Links for Gene (Select 440093) - SNP

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Select item 14915399371.

rs1491539937 has merged into rs1185712105 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:31793094 (GRCh38)
12:31946028 (GRCh37)
Canonical SPDI:: NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31793086:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.31793094_31793104del, NC_000012.12:g.31793099_31793104del, NC_000012.12:g.31793101_31793104del, NC_000012.12:g.31793102_31793104del, NC_000012.12:g.31793103_31793104del, NC_000012.12:g.31793104del, NC_000012.12:g.31793104dup, NC_000012.12:g.31793103_31793104dup, NC_000012.12:g.31793102_31793104dup, NC_000012.12:g.31793101_31793104dup, NC_000012.12:g.31793100_31793104dup, NC_000012.12:g.31793099_31793104dup, NC_000012.12:g.31793098_31793104dup, NC_000012.12:g.31793097_31793104dup, NC_000012.12:g.31793096_31793104dup, NC_000012.12:g.31793095_31793104dup, NC_000012.12:g.31793094_31793104dup, NC_000012.12:g.31793093_31793104dup, NC_000012.12:g.31793092_31793104dup, NC_000012.12:g.31793091_31793104dup, NC_000012.12:g.31793090_31793104dup, NC_000012.12:g.31793088_31793104dup, NC_000012.12:g.31793104_31793105insTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.31793104_31793105insTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.31793104_31793105insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.31793104_31793105insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.31793104_31793105insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.31793104_31793105insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.31946028_31946038del, NC_000012.11:g.31946033_31946038del, NC_000012.11:g.31946035_31946038del, NC_000012.11:g.31946036_31946038del, NC_000012.11:g.31946037_31946038del, NC_000012.11:g.31946038del, NC_000012.11:g.31946038dup, NC_000012.11:g.31946037_31946038dup, NC_000012.11:g.31946036_31946038dup, NC_000012.11:g.31946035_31946038dup, NC_000012.11:g.31946034_31946038dup, NC_000012.11:g.31946033_31946038dup, NC_000012.11:g.31946032_31946038dup, NC_000012.11:g.31946031_31946038dup, NC_000012.11:g.31946030_31946038dup, NC_000012.11:g.31946029_31946038dup, NC_000012.11:g.31946028_31946038dup, NC_000012.11:g.31946027_31946038dup, NC_000012.11:g.31946026_31946038dup, NC_000012.11:g.31946025_31946038dup, NC_000012.11:g.31946024_31946038dup, NC_000012.11:g.31946022_31946038dup, NC_000012.11:g.31946038_31946039insTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.31946038_31946039insTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.31946038_31946039insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.31946038_31946039insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.31946038_31946039insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.31946038_31946039insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912247052.

rs1491224705 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:31793087 (GRCh38)
12:31946022 (GRCh37)
Canonical SPDI:: NC_000012.12:31793087::C
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00059/27 (GnomAD)
HGVS:: NC_000012.12:g.31793087_31793088insC, NC_000012.11:g.31946021_31946022insC

Select item 14909765553.

rs1490976555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:31793221 (GRCh38)
12:31946155 (GRCh37)
Canonical SPDI:: NC_000012.12:31793220:C:A,NC_000012.12:31793220:C:G
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.31793221C>A, NC_000012.12:g.31793221C>G, NC_000012.11:g.31946155C>A, NC_000012.11:g.31946155C>G

Select item 14903767544.

rs1490376754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:31791527 (GRCh38)
12:31944461 (GRCh37)
Canonical SPDI:: NC_000012.12:31791526:A:T
Gene:: H3-5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.31791527A>T, NC_000012.11:g.31944461A>T, NM_001013699.3:c.*232T>A, NM_001013699.2:c.*232T>A

Select item 14902154355.

rs1490215435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:31792310 (GRCh38)
12:31945244 (GRCh37)
Canonical SPDI:: NC_000012.12:31792309:T:C
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.31792310T>C, NC_000012.11:g.31945244T>C

Select item 14898328516.

rs1489832851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31792995 (GRCh38)
12:31945929 (GRCh37)
Canonical SPDI:: NC_000012.12:31792994:G:A
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.31792995G>A, NC_000012.11:g.31945929G>A

Select item 14897906917.

rs1489790691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31792411 (GRCh38)
12:31945345 (GRCh37)
Canonical SPDI:: NC_000012.12:31792410:G:A
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.31792411G>A, NC_000012.11:g.31945345G>A

Select item 14888847578.

rs1488884757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31792515 (GRCh38)
12:31945449 (GRCh37)
Canonical SPDI:: NC_000012.12:31792514:A:G
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.31792515A>G, NC_000012.11:g.31945449A>G

Select item 14879708219.

rs1487970821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:31790789 (GRCh38)
12:31943723 (GRCh37)
Canonical SPDI:: NC_000012.12:31790788:T:C
Gene:: H3-5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000012.12:g.31790789T>C, NC_000012.11:g.31943723T>C

Select item 148669422610.

rs1486694226 [Homo sapiens]

Variant type:: DEL
Alleles:: CTCTC>- [Show Flanks]
Chromosome:: 12:31793082 (GRCh38)
12:31946016 (GRCh37)
Canonical SPDI:: NC_000012.12:31793081:CTCTC:
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.31793082_31793086del, NC_000012.11:g.31946016_31946020del

Select item 148504668011.

rs1485046680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:31792361 (GRCh38)
12:31945295 (GRCh37)
Canonical SPDI:: NC_000012.12:31792360:T:A
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.31792361T>A, NC_000012.11:g.31945295T>A

Select item 148422992812.

rs1484229928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31794078 (GRCh38)
12:31947012 (GRCh37)
Canonical SPDI:: NC_000012.12:31794077:A:G
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.31794078A>G, NC_000012.11:g.31947012A>G

Select item 148376993113.

rs1483769931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:31793166 (GRCh38)
12:31946100 (GRCh37)
Canonical SPDI:: NC_000012.12:31793165:G:A,NC_000012.12:31793165:G:C
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.31793166G>A, NC_000012.12:g.31793166G>C, NC_000012.11:g.31946100G>A, NC_000012.11:g.31946100G>C

Select item 148352179514.

rs1483521795 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTT>- [Show Flanks]
Chromosome:: 12:31791399 (GRCh38)
12:31944333 (GRCh37)
Canonical SPDI:: NC_000012.12:31791397:TTGTT:T
Gene:: H3-5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000053/14 (TOPMED)
HGVS:: NC_000012.12:g.31791399_31791402del, NC_000012.11:g.31944333_31944336del, NM_001013699.3:c.*358_*361del, NM_001013699.2:c.*358_*361del

Select item 148268064615.

rs1482680646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31793676 (GRCh38)
12:31946610 (GRCh37)
Canonical SPDI:: NC_000012.12:31793675:G:A
Gene:: H3-5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.31793676G>A, NC_000012.11:g.31946610G>A

Select item 148235235016.

rs1482352350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:31794120 (GRCh38)
12:31947054 (GRCh37)
Canonical SPDI:: NC_000012.12:31794119:C:T
Gene:: H3-5 (Varview)
Functional Consequence:: 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_000012.12:g.31794120C>T, NC_000012.11:g.31947054C>T

Select item 148171030317.

rs1481710303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:31793317 (GRCh38)
12:31946251 (GRCh37)
Canonical SPDI:: NC_000012.12:31793316:C:G
Gene:: H3-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.31793317C>G, NC_000012.11:g.31946251C>G

Select item 147994541418.

rs1479945414 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:31793115 (GRCh38)
12:31946049 (GRCh37)
Canonical SPDI:: NC_000012.12:31793114:A:
Gene:: H3-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.31793115del, NC_000012.11:g.31946049del

Select item 147945289019.

rs1479452890 has merged into rs200123004 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCT>-,CT,CTCT,CTCTCTCT [Show Flanks]
Chromosome:: 12:31793082 (GRCh38)
12:31946016 (GRCh37)
Canonical SPDI:: NC_000012.12:31793070:TCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000012.12:31793070:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000012.12:31793070:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000012.12:31793070:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT
Gene:: H3-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCT=0.00033/5 (ALFA)
-=0.01667/10 (NorthernSweden)
-=0.09399/172 (Korea1K)
-=0.10356/384 (TWINSUK)
HGVS:: NC_000012.12:g.31793072CT[5], NC_000012.12:g.31793072CT[6], NC_000012.12:g.31793072CT[7], NC_000012.12:g.31793072CT[9], NC_000012.11:g.31946006CT[5], NC_000012.11:g.31946006CT[6], NC_000012.11:g.31946006CT[7], NC_000012.11:g.31946006CT[9]

Select item 147913290720.

rs1479132907 [Homo sapiens]

Variant type:: DEL
Alleles:: CCG>- [Show Flanks]
Chromosome:: 12:31792129 (GRCh38)
12:31945063 (GRCh37)
Canonical SPDI:: NC_000012.12:31792128:CCG:
Gene:: H3-5 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.31792129_31792131del, NC_000012.11:g.31945063_31945065del, NM_001013699.3:c.36_38del, NM_001013699.2:c.36_38del, NP_001013721.2:p.Gly14del

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