SNP Links for Gene (Select 79153) - SNP

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Select item 14906612981.

rs1490661298 has merged into rs143444520 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTATTTATTT>-,ATTT,ATTTATTT,ATTTATTTATTTATTT,ATTTATTTATTTATTTATTT [Show Flanks]
Chromosome:: 16:30105508 (GRCh38)
16:30116829 (GRCh37)
Canonical SPDI:: NC_000016.10:30105493:TTATTTATTTATTTATTTATTTATTT:TTATTTATTTATTT,NC_000016.10:30105493:TTATTTATTTATTTATTTATTTATTT:TTATTTATTTATTTATTT,NC_000016.10:30105493:TTATTTATTTATTTATTTATTTATTT:TTATTTATTTATTTATTTATTT,NC_000016.10:30105493:TTATTTATTTATTTATTTATTTATTT:TTATTTATTTATTTATTTATTTATTTATTT,NC_000016.10:30105493:TTATTTATTTATTTATTTATTTATTT:TTATTTATTTATTTATTTATTTATTTATTTATTT
Gene:: GDPD3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTATTTATTTATTTATTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TTAT=0.000389/7 (TOMMO)
TTAT=0.000549/1 (Korea1K)
TTAT=0.008276/41 (1000Genomes)
HGVS:: NC_000016.10:g.30105496ATTT[3], NC_000016.10:g.30105496ATTT[4], NC_000016.10:g.30105496ATTT[5], NC_000016.10:g.30105496ATTT[7], NC_000016.10:g.30105496ATTT[8], NC_000016.9:g.30116817ATTT[3], NC_000016.9:g.30116817ATTT[4], NC_000016.9:g.30116817ATTT[5], NC_000016.9:g.30116817ATTT[7], NC_000016.9:g.30116817ATTT[8]

Select item 14906084012.

rs1490608401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30106365 (GRCh38)
16:30117686 (GRCh37)
Canonical SPDI:: NC_000016.10:30106364:T:G
Gene:: GDPD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000016.10:g.30106365T>G, NC_000016.9:g.30117686T>G

Select item 14903514163.

rs1490351416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:30113211 (GRCh38)
16:30124532 (GRCh37)
Canonical SPDI:: NC_000016.10:30113210:G:A,NC_000016.10:30113210:G:T
Gene:: GDPD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30113211G>A, NC_000016.10:g.30113211G>T, NC_000016.9:g.30124532G>A, NC_000016.9:g.30124532G>T, NG_029936.1:g.15099C>T, NG_029936.1:g.15099C>A

Select item 14898438204.

rs1489843820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:30105144 (GRCh38)
16:30116465 (GRCh37)
Canonical SPDI:: NC_000016.10:30105143:A:C
Gene:: GDPD3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_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_000016.10:g.30105144A>C, NC_000016.9:g.30116465A>C, NR_135192.1:n.2678A>C

Select item 14896932365.

rs1489693236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:30112855 (GRCh38)
16:30124176 (GRCh37)
Canonical SPDI:: NC_000016.10:30112854:T:C,NC_000016.10:30112854:T:G
Gene:: GDPD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.30112855T>C, NC_000016.10:g.30112855T>G, NC_000016.9:g.30124176T>C, NC_000016.9:g.30124176T>G, NG_029936.1:g.15455A>G, NG_029936.1:g.15455A>C

Select item 14896387766.

rs1489638776 has merged into rs35952168 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:30115084 (GRCh38)
16:30126405 (GRCh37)
Canonical SPDI:: NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30115073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MAPK3 (Varview), GDPD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
A=0.45/18 (GENOME_DK)
HGVS:: NC_000016.10:g.30115084_30115091del, NC_000016.10:g.30115088_30115091del, NC_000016.10:g.30115089_30115091del, NC_000016.10:g.30115090_30115091del, NC_000016.10:g.30115091del, NC_000016.10:g.30115091dup, NC_000016.10:g.30115090_30115091dup, NC_000016.10:g.30115089_30115091dup, NC_000016.10:g.30115087_30115091dup, NC_000016.10:g.30115086_30115091dup, NC_000016.9:g.30126405_30126412del, NC_000016.9:g.30126409_30126412del, NC_000016.9:g.30126410_30126412del, NC_000016.9:g.30126411_30126412del, NC_000016.9:g.30126412del, NC_000016.9:g.30126412dup, NC_000016.9:g.30126411_30126412dup, NC_000016.9:g.30126410_30126412dup, NC_000016.9:g.30126408_30126412dup, NC_000016.9:g.30126407_30126412dup, NG_029936.1:g.13229_13236del, NG_029936.1:g.13233_13236del, NG_029936.1:g.13234_13236del, NG_029936.1:g.13235_13236del, NG_029936.1:g.13236del, NG_029936.1:g.13236dup, NG_029936.1:g.13235_13236dup, NG_029936.1:g.13234_13236dup, NG_029936.1:g.13232_13236dup, NG_029936.1:g.13231_13236dup

Select item 14892782157.

rs1489278215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30114523 (GRCh38)
16:30125844 (GRCh37)
Canonical SPDI:: NC_000016.10:30114522:C:T
Gene:: MAPK3 (Varview), GDPD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.30114523C>T, NC_000016.9:g.30125844C>T, NG_029936.1:g.13787G>A, NM_002746.3:c.*218G>A, NM_002746.2:c.*218G>A, NM_001109891.2:c.*218G>A, NM_001109891.1:c.*218G>A, XR_243293.2:n.1420G>A, XR_243293.1:n.1509G>A

Select item 14892245598.

rs1489224559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30108721 (GRCh38)
16:30120042 (GRCh37)
Canonical SPDI:: NC_000016.10:30108720:G:C
Gene:: GDPD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30108721G>C, NC_000016.9:g.30120042G>C

Select item 14888470489.

rs1488847048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30114994 (GRCh38)
16:30126315 (GRCh37)
Canonical SPDI:: NC_000016.10:30114993:T:C
Gene:: MAPK3 (Varview), GDPD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.30114994T>C, NC_000016.9:g.30126315T>C, NG_029936.1:g.13316A>G

Select item 148858650610.

rs1488586506 has merged into rs1262207289 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGCTGGG>-,GAGCTGGGGAGCTGGG [Show Flanks]
Chromosome:: 16:30111307 (GRCh38)
16:30122628 (GRCh37)
Canonical SPDI:: NC_000016.10:30111295:GGGGAGCTGGGGAGCTGGG:GGGGAGCTGGG,NC_000016.10:30111295:GGGGAGCTGGGGAGCTGGG:GGGGAGCTGGGGAGCTGGGGAGCTGGG
Gene:: GDPD3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGAGCTGGGGAGCTGGGGAGCTGGG=0./0 (ALFA)
GGGGAGCT=0.000057/8 (GnomAD)
HGVS:: NC_000016.10:g.30111299GAGCTGGG[1], NC_000016.10:g.30111299GAGCTGGG[3], NC_000016.9:g.30122620GAGCTGGG[1], NC_000016.9:g.30122620GAGCTGGG[3]

Select item 148847535211.

rs1488475352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30107781 (GRCh38)
16:30119102 (GRCh37)
Canonical SPDI:: NC_000016.10:30107780:G:C
Gene:: GDPD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30107781G>C, NC_000016.9:g.30119102G>C

Select item 148844587812.

rs1488445878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30108542 (GRCh38)
16:30119863 (GRCh37)
Canonical SPDI:: NC_000016.10:30108541:C:A
Gene:: GDPD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.30108542C>A, NC_000016.9:g.30119863C>A

Select item 148751679013.

rs1487516790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30112063 (GRCh38)
16:30123384 (GRCh37)
Canonical SPDI:: NC_000016.10:30112062:G:T
Gene:: GDPD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.30112063G>T, NC_000016.9:g.30123384G>T

Select item 148680462914.

rs1486804629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:30109310 (GRCh38)
16:30120631 (GRCh37)
Canonical SPDI:: NC_000016.10:30109309:G:C,NC_000016.10:30109309:G:T
Gene:: GDPD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30109310G>C, NC_000016.10:g.30109310G>T, NC_000016.9:g.30120631G>C, NC_000016.9:g.30120631G>T

Select item 148649787815.

rs1486497878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30114744 (GRCh38)
16:30126065 (GRCh37)
Canonical SPDI:: NC_000016.10:30114743:C:T
Gene:: MAPK3 (Varview), GDPD3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30114744C>T, NC_000016.9:g.30126065C>T, NG_029936.1:g.13566G>A

Select item 148598321616.

rs1485983216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30111585 (GRCh38)
16:30122906 (GRCh37)
Canonical SPDI:: NC_000016.10:30111584:C:T
Gene:: GDPD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.30111585C>T, NC_000016.9:g.30122906C>T

Select item 148597675417.

rs1485976754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30115314 (GRCh38)
16:30126635 (GRCh37)
Canonical SPDI:: NC_000016.10:30115313:C:A
Gene:: MAPK3 (Varview), GDPD3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30115314C>A, NC_000016.9:g.30126635C>A, NG_029936.1:g.12996G>T

Select item 148553320218.

rs1485533202 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:30109398 (GRCh38)
16:30120719 (GRCh37)
Canonical SPDI:: NC_000016.10:30109397:A:
Gene:: GDPD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30109398del, NC_000016.9:g.30120719del

Select item 148532268819.

rs1485322688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTT [Show Flanks]
Chromosome:: 16:30112160 (GRCh38)
16:30123482 (GRCh37)
Canonical SPDI:: NC_000016.10:30112160:TCTT:TCTTTCTT
Gene:: GDPD3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTTTCTT=0./0 (ALFA)
TCTT=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30112161_30112164dup, NC_000016.9:g.30123482_30123485dup, NG_029936.1:g.16146_16149dup, NM_024307.3:c.541_544dup, NM_024307.2:c.541_544dup, NM_001031718.1:c.367_370dup, XR_007064912.1:n.596_599dup, NP_077283.2:p.Ser182fs

Select item 148504338720.

rs1485043387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30111447 (GRCh38)
16:30122768 (GRCh37)
Canonical SPDI:: NC_000016.10:30111446:C:A
Gene:: GDPD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30111447C>A, NC_000016.9:g.30122768C>A, NM_024307.3:c.648G>T, NM_024307.2:c.648G>T, NM_001031718.1:c.474G>T, XR_007064912.1:n.703G>T

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