SNP Links for Gene (Select 11319) - SNP

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Select item 14915723061.

rs1491572306 has merged into rs60066016 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:73139231 (GRCh38)
10:74898989 (GRCh37)
Canonical SPDI:: NC_000010.11:73139216:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:73139216:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:73139216:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:73139216:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:73139216:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:73139216:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:73139216:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0.00008/1 (ALFA)
-=0.02768/16 (NorthernSweden)
-=0.05852/217 (TWINSUK)
-=0.06201/239 (ALSPAC)
-=0.30811/1543 (1000Genomes)
HGVS:: NC_000010.11:g.73139231_73139233del, NC_000010.11:g.73139232_73139233del, NC_000010.11:g.73139233del, NC_000010.11:g.73139233dup, NC_000010.11:g.73139232_73139233dup, NC_000010.11:g.73139231_73139233dup, NC_000010.11:g.73139225_73139233dup, NC_000010.10:g.74898989_74898991del, NC_000010.10:g.74898990_74898991del, NC_000010.10:g.74898991del, NC_000010.10:g.74898991dup, NC_000010.10:g.74898990_74898991dup, NC_000010.10:g.74898989_74898991dup, NC_000010.10:g.74898983_74898991dup

Select item 14915555442.

rs1491555544 has merged into rs546818557 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 10:73139596 (GRCh38)
10:74899354 (GRCh37)
Canonical SPDI:: NC_000010.11:73139585:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:73139585:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:73139585:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.02166/594 (ALFA)
-=0.00106/18 (TOMMO)
-=0.02048/100 (1000Genomes)
HGVS:: NC_000010.11:g.73139596_73139597del, NC_000010.11:g.73139597del, NC_000010.11:g.73139597dup, NC_000010.10:g.74899354_74899355del, NC_000010.10:g.74899355del, NC_000010.10:g.74899355dup

Select item 14915522093.

rs1491552209 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:73153725 (GRCh38)
10:74913483 (GRCh37)
Canonical SPDI:: NC_000010.11:73153724:CA:
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000010.11:g.73153725_73153726del, NC_000010.10:g.74913483_74913484del

Select item 14915366554.

rs1491536655 has merged into rs201711578 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:73153735 (GRCh38)
10:74913493 (GRCh37)
Canonical SPDI:: NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73153725:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.73153735_73153749del, NC_000010.11:g.73153737_73153749del, NC_000010.11:g.73153738_73153749del, NC_000010.11:g.73153739_73153749del, NC_000010.11:g.73153740_73153749del, NC_000010.11:g.73153741_73153749del, NC_000010.11:g.73153742_73153749del, NC_000010.11:g.73153743_73153749del, NC_000010.11:g.73153744_73153749del, NC_000010.11:g.73153745_73153749del, NC_000010.11:g.73153746_73153749del, NC_000010.11:g.73153747_73153749del, NC_000010.11:g.73153748_73153749del, NC_000010.11:g.73153749del, NC_000010.11:g.73153749dup, NC_000010.11:g.73153748_73153749dup, NC_000010.11:g.73153747_73153749dup, NC_000010.11:g.73153746_73153749dup, NC_000010.11:g.73153744_73153749dup, NC_000010.11:g.73153749_73153750insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.73153726_73153749A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.74913493_74913507del, NC_000010.10:g.74913495_74913507del, NC_000010.10:g.74913496_74913507del, NC_000010.10:g.74913497_74913507del, NC_000010.10:g.74913498_74913507del, NC_000010.10:g.74913499_74913507del, NC_000010.10:g.74913500_74913507del, NC_000010.10:g.74913501_74913507del, NC_000010.10:g.74913502_74913507del, NC_000010.10:g.74913503_74913507del, NC_000010.10:g.74913504_74913507del, NC_000010.10:g.74913505_74913507del, NC_000010.10:g.74913506_74913507del, NC_000010.10:g.74913507del, NC_000010.10:g.74913507dup, NC_000010.10:g.74913506_74913507dup, NC_000010.10:g.74913505_74913507dup, NC_000010.10:g.74913504_74913507dup, NC_000010.10:g.74913502_74913507dup, NC_000010.10:g.74913507_74913508insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.74913484_74913507A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914142775.

rs1491414277 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:73139216 (GRCh38)
10:74898974 (GRCh37)
Canonical SPDI:: NC_000010.11:73139215:CA:
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.73139216_73139217del, NC_000010.10:g.74898974_74898975del

Select item 14913675586.

rs1491367558 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:73166160 (GRCh38)
10:74925918 (GRCh37)
Canonical SPDI:: NC_000010.11:73166159:AT:
Gene:: ECD (Varview), FAM149B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000355/94 (TOPMED)
-=0.000368/51 (GnomAD)
HGVS:: NC_000010.11:g.73166160_73166161del, NC_000010.10:g.74925918_74925919del

Select item 14913407167.

rs1491340716 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:73155593 (GRCh38)
10:74915352 (GRCh37)
Canonical SPDI:: NC_000010.11:73155593:C:CC
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000010.11:g.73155594dup, NC_000010.10:g.74915352dup

Select item 14913342598.

rs1491334259 has merged into rs373771139 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 10:73166170 (GRCh38)
10:74925928 (GRCh37)
Canonical SPDI:: NC_000010.11:73166160:TTTTTTTTTTT:TTTTTTTTT,NC_000010.11:73166160:TTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:73166160:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:73166160:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: ECD (Varview), FAM149B1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.005/3 (NorthernSweden)
-=0.012024/12 (GoNL)
-=0.025/1 (GENOME_DK)
-=0.055389/14661 (TOPMED)
-=0.063498/318 (1000Genomes)
HGVS:: NC_000010.11:g.73166170_73166171del, NC_000010.11:g.73166171del, NC_000010.11:g.73166171dup, NC_000010.11:g.73166170_73166171dup, NC_000010.10:g.74925928_74925929del, NC_000010.10:g.74925929del, NC_000010.10:g.74925929dup, NC_000010.10:g.74925928_74925929dup

Select item 14912016699.

rs1491201669 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 10:73155593 (GRCh38)
10:74915351 (GRCh37)
Canonical SPDI:: NC_000010.11:73155592:AC:
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.73155593_73155594del, NC_000010.10:g.74915351_74915352del

Select item 149104796010.

rs1491047960 has merged into rs199864779 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 10:73157734 (GRCh38)
10:74917492 (GRCh37)
Canonical SPDI:: NC_000010.11:73157722:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:73157722:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:73157722:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:73157722:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.04209/25 (NorthernSweden)
A=0.15789/6 (GENOME_DK)
A=0.23263/1165 (1000Genomes)
HGVS:: NC_000010.11:g.73157734_73157735del, NC_000010.11:g.73157735del, NC_000010.11:g.73157735dup, NC_000010.11:g.73157734_73157735dup, NC_000010.10:g.74917492_74917493del, NC_000010.10:g.74917493del, NC_000010.10:g.74917493dup, NC_000010.10:g.74917492_74917493dup

Select item 149098190011.

rs1490981900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:73157606 (GRCh38)
10:74917364 (GRCh37)
Canonical SPDI:: NC_000010.11:73157605:C:T
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73157606C>T, NC_000010.10:g.74917364C>T

Select item 149087763912.

rs1490877639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:73168661 (GRCh38)
10:74928419 (GRCh37)
Canonical SPDI:: NC_000010.11:73168660:G:A,NC_000010.11:73168660:G:C
Gene:: ECD (Varview), FAM149B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.73168661G>A, NC_000010.11:g.73168661G>C, NC_000010.10:g.74928419G>A, NC_000010.10:g.74928419G>C

Select item 149080545513.

rs1490805455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:73169489 (GRCh38)
10:74929247 (GRCh37)
Canonical SPDI:: NC_000010.11:73169488:G:C,NC_000010.11:73169488:G:T
Gene:: ECD (Varview), FAM149B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.73169489G>C, NC_000010.11:g.73169489G>T, NC_000010.10:g.74929247G>C, NC_000010.10:g.74929247G>T

Select item 149050762414.

rs1490507624 has merged into rs774090776 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 10:73161250 (GRCh38)
10:74921008 (GRCh37)
Canonical SPDI:: NC_000010.11:73161249:AAAAAA:AAAAA,NC_000010.11:73161249:AAAAAA:AAAAAAA
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.000071/1 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000096/13 (GnomAD)
HGVS:: NC_000010.11:g.73161255del, NC_000010.11:g.73161255dup, NC_000010.10:g.74921013del, NC_000010.10:g.74921013dup

Select item 149049688115.

rs1490496881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:73139654 (GRCh38)
10:74899412 (GRCh37)
Canonical SPDI:: NC_000010.11:73139653:G:C
Gene:: ECD (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.73139654G>C, NC_000010.10:g.74899412G>C, NM_007265.3:c.1211C>G, NM_007265.2:c.1211C>G, NM_001135752.1:c.1310C>G, NM_001135753.1:c.1082C>G, NR_024203.1:n.1043C>G, NP_009196.1:p.Ala404Gly, NP_001129224.1:p.Ala437Gly, NP_001129225.1:p.Ala361Gly

Select item 149044575816.

rs1490445758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:73161164 (GRCh38)
10:74920922 (GRCh37)
Canonical SPDI:: NC_000010.11:73161163:C:A,NC_000010.11:73161163:C:G
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
A=0.026352/77 (KOREAN)
HGVS:: NC_000010.11:g.73161164C>A, NC_000010.11:g.73161164C>G, NC_000010.10:g.74920922C>A, NC_000010.10:g.74920922C>G

Select item 149043819517.

rs1490438195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:73145933 (GRCh38)
10:74905691 (GRCh37)
Canonical SPDI:: NC_000010.11:73145932:G:A
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.73145933G>A, NC_000010.10:g.74905691G>A

Select item 149039504518.

rs1490395045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73163485 (GRCh38)
10:74923243 (GRCh37)
Canonical SPDI:: NC_000010.11:73163484:A:G
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.73163485A>G, NC_000010.10:g.74923243A>G

Select item 149031515219.

rs1490315152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:73169943 (GRCh38)
10:74929701 (GRCh37)
Canonical SPDI:: NC_000010.11:73169942:C:A,NC_000010.11:73169942:C:T
Gene:: ECD (Varview), FAM149B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00137/4 (KOREAN)
HGVS:: NC_000010.11:g.73169943C>A, NC_000010.11:g.73169943C>T, NC_000010.10:g.74929701C>A, NC_000010.10:g.74929701C>T

Select item 149018446120.

rs1490184461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:73145835 (GRCh38)
10:74905593 (GRCh37)
Canonical SPDI:: NC_000010.11:73145834:G:T
Gene:: ECD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.73145835G>T, NC_000010.10:g.74905593G>T

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