SNP Links for Gene (Select 2781) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14913975951.

rs1491397595 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:23082124 (GRCh38)
22:23424311 (GRCh37)
Canonical SPDI:: NC_000022.11:23082123:CA:
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.23082124_23082125del, NC_000022.10:g.23424311_23424312del

Select item 14913352452.

rs1491335245 has merged into rs55713577 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:23081830 (GRCh38)
22:23424016 (GRCh37)
Canonical SPDI:: NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:23081821:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23081830_23081843del, NC_000022.11:g.23081832_23081843del, NC_000022.11:g.23081833_23081843del, NC_000022.11:g.23081834_23081843del, NC_000022.11:g.23081835_23081843del, NC_000022.11:g.23081836_23081843del, NC_000022.11:g.23081837_23081843del, NC_000022.11:g.23081838_23081843del, NC_000022.11:g.23081839_23081843del, NC_000022.11:g.23081840_23081843del, NC_000022.11:g.23081841_23081843del, NC_000022.11:g.23081842_23081843del, NC_000022.11:g.23081843del, NC_000022.11:g.23081843dup, NC_000022.11:g.23081842_23081843dup, NC_000022.11:g.23081841_23081843dup, NC_000022.11:g.23081840_23081843dup, NC_000022.11:g.23081839_23081843dup, NC_000022.11:g.23081838_23081843dup, NC_000022.10:g.23424017_23424030del, NC_000022.10:g.23424019_23424030del, NC_000022.10:g.23424020_23424030del, NC_000022.10:g.23424021_23424030del, NC_000022.10:g.23424022_23424030del, NC_000022.10:g.23424023_23424030del, NC_000022.10:g.23424024_23424030del, NC_000022.10:g.23424025_23424030del, NC_000022.10:g.23424026_23424030del, NC_000022.10:g.23424027_23424030del, NC_000022.10:g.23424028_23424030del, NC_000022.10:g.23424029_23424030del, NC_000022.10:g.23424030del, NC_000022.10:g.23424030dup, NC_000022.10:g.23424029_23424030dup, NC_000022.10:g.23424028_23424030dup, NC_000022.10:g.23424027_23424030dup, NC_000022.10:g.23424026_23424030dup, NC_000022.10:g.23424025_23424030dup

Select item 14911774373.

rs1491177437 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:23081821 (GRCh38)
22:-1 (GRCh37)
Canonical SPDI:: NC_000022.11:23081820:CA:
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.23081821_23081822del

Select item 14911747884.

rs1491174788 has merged into rs1312552241 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 22:23082133 (GRCh38)
22:23424320 (GRCh37)
Canonical SPDI:: NC_000022.11:23082124:AAAAAAAAAA:AAAAAAAA,NC_000022.11:23082124:AAAAAAAAAA:AAAAAAAAA,NC_000022.11:23082124:AAAAAAAAAA:AAAAAAAAAAA
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.00025/4 (TOMMO)
HGVS:: NC_000022.11:g.23082133_23082134del, NC_000022.11:g.23082134del, NC_000022.11:g.23082134dup, NC_000022.10:g.23424320_23424321del, NC_000022.10:g.23424321del, NC_000022.10:g.23424321dup

Select item 14909136815.

rs1490913681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23109791 (GRCh38)
22:23451978 (GRCh37)
Canonical SPDI:: NC_000022.11:23109790:G:A
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_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_000022.11:g.23109791G>A, NC_000022.10:g.23451978G>A, XM_017028786.3:c.*10979G>A, XM_017028786.2:c.*10979G>A, XM_017028786.1:c.*10979G>A

Select item 14908845136.

rs1490884513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:23078635 (GRCh38)
22:23420821 (GRCh37)
Canonical SPDI:: NC_000022.11:23078634:G:C
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.23078635G>C, NC_000022.10:g.23420821G>C

Select item 14908444127.

rs1490844412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23092266 (GRCh38)
22:23434453 (GRCh37)
Canonical SPDI:: NC_000022.11:23092265:C:T
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000022.11:g.23092266C>T, NC_000022.10:g.23434453C>T

Select item 14907934798.

rs1490793479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:23115252 (GRCh38)
22:23457439 (GRCh37)
Canonical SPDI:: NC_000022.11:23115251:C:A
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000022.11:g.23115252C>A, NC_000022.10:g.23457439C>A

Select item 14907429839.

rs1490742983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:23081136 (GRCh38)
22:23423322 (GRCh37)
Canonical SPDI:: NC_000022.11:23081135:G:T
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000022.11:g.23081136G>T, NC_000022.10:g.23423322G>T

Select item 149072552710.

rs1490725527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23113551 (GRCh38)
22:23455738 (GRCh37)
Canonical SPDI:: NC_000022.11:23113550:C:T
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000022.11:g.23113551C>T, NC_000022.10:g.23455738C>T, XM_017028786.3:c.*14739C>T, XM_017028786.2:c.*14739C>T, XM_017028786.1:c.*14739C>T

Select item 149065728411.

rs1490657284 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 22:23101604 (GRCh38)
22:23443791 (GRCh37)
Canonical SPDI:: NC_000022.11:23101603:AA:A
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.23101605del, NC_000022.10:g.23443792del, XM_017028786.3:c.*2793del, XM_017028786.2:c.*2793del, XM_017028786.1:c.*2793del

Select item 149037173312.

rs1490371733 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCGACG [Show Flanks]
Chromosome:: 22:23070379 (GRCh38)
22:23412566 (GRCh37)
Canonical SPDI:: NC_000022.11:23070379:CG:CGGGCGACG
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CGGGCGACG=0./0 (ALFA)
HGVS:: NC_000022.11:g.23070381_23070382insGGCGACG, NC_000022.10:g.23412567_23412568insGGCGACG, NM_002073.3:c.-639_-638insGGCGACG

Select item 149035032313.

rs1490350323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23113938 (GRCh38)
22:23456125 (GRCh37)
Canonical SPDI:: NC_000022.11:23113937:T:C
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.0011/2 (Korea1K)
HGVS:: NC_000022.11:g.23113938T>C, NC_000022.10:g.23456125T>C, XM_017028786.3:c.*15126T>C, XM_017028786.2:c.*15126T>C, XM_017028786.1:c.*15126T>C

Select item 149001921314.

rs1490019213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:23114596 (GRCh38)
22:23456783 (GRCh37)
Canonical SPDI:: NC_000022.11:23114595:G:T
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.23114596G>T, NC_000022.10:g.23456783G>T, XM_017028786.3:c.*15784G>T, XM_017028786.2:c.*15784G>T, XM_017028786.1:c.*15784G>T

Select item 149000266615.

rs1490002666 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC,GCTGAGTC [Show Flanks]
Chromosome:: 22:23070610 (GRCh38)
22:23412797 (GRCh37)
Canonical SPDI:: NC_000022.11:23070610:C:CGC,NC_000022.11:23070610:C:CGCTGAGTC
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0.00043/8 (ALFA)
CG=0.00179/8 (Estonian)
HGVS:: NC_000022.11:g.23070611_23070612insGC, NC_000022.11:g.23070611_23070612insGCTGAGTC, NC_000022.10:g.23412797_23412798insGC, NC_000022.10:g.23412797_23412798insGCTGAGTC

Select item 148996005716.

rs1489960057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23107568 (GRCh38)
22:23449755 (GRCh37)
Canonical SPDI:: NC_000022.11:23107567:C:T
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.23107568C>T, NC_000022.10:g.23449755C>T, XM_017028786.3:c.*8756C>T, XM_017028786.2:c.*8756C>T, XM_017028786.1:c.*8756C>T

Select item 148994944217.

rs1489949442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:23123952 (GRCh38)
22:23466139 (GRCh37)
Canonical SPDI:: NC_000022.11:23123951:A:C
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.23123952A>C, NC_000022.10:g.23466139A>C, NM_002073.4:c.*521A>C, NM_002073.3:c.*521A>C, NM_002073.2:c.*521A>C

Select item 148994911818.

rs1489949118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23085434 (GRCh38)
22:23427621 (GRCh37)
Canonical SPDI:: NC_000022.11:23085433:G:A
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000022.11:g.23085434G>A, NC_000022.10:g.23427621G>A

Select item 148987860619.

rs1489878606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:23078440 (GRCh38)
22:23420626 (GRCh37)
Canonical SPDI:: NC_000022.11:23078439:A:G
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000042/11 (TOPMED)
G=0.000602/10 (TOMMO)
G=0.002053/6 (KOREAN)
G=0.004367/8 (Korea1K)
HGVS:: NC_000022.11:g.23078440A>G, NC_000022.10:g.23420626A>G

Select item 148978259720.

rs1489782597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:23079411 (GRCh38)
22:23421597 (GRCh37)
Canonical SPDI:: NC_000022.11:23079410:A:T
Gene:: GNAZ (Varview), RSPH14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.23079411A>T, NC_000022.10:g.23421597A>T

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity