SNP Links for Gene (Select 147670) - SNP

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Select item 14914776021.

rs1491477602 has merged into rs112526874 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAG>-,AG,AGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG [Show Flanks]
Chromosome:: 19:56652684 (GRCh38)
19:57164052 (GRCh37)
Canonical SPDI:: NC_000019.10:56652671:AGAGAGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000019.10:56652671:AGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000019.10:56652671:AGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000019.10:56652671:AGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000019.10:56652671:AGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000019.10:56652671:AGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AG=0.033055/554 (TOMMO)
AG=0.045306/83 (Korea1K)
AG=0.05/30 (NorthernSweden)
AG=0.1/4 (GENOME_DK)
AG=0.17206/638 (TWINSUK)
AG=0.185003/713 (ALSPAC)
HGVS:: NC_000019.10:g.56652672AG[6], NC_000019.10:g.56652672AG[7], NC_000019.10:g.56652672AG[8], NC_000019.10:g.56652672AG[10], NC_000019.10:g.56652672AG[11], NC_000019.10:g.56652672AG[12], NC_000019.9:g.57164040AG[6], NC_000019.9:g.57164040AG[7], NC_000019.9:g.57164040AG[8], NC_000019.9:g.57164040AG[10], NC_000019.9:g.57164040AG[11], NC_000019.9:g.57164040AG[12]

Select item 14912546802.

rs1491254680 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:56652101 (GRCh38)
19:57163469 (GRCh37)
Canonical SPDI:: NC_000019.10:56652100:CA:
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000019.10:g.56652101_56652102del, NC_000019.9:g.57163469_57163470del

Select item 14912041863.

rs1491204186 has merged into rs577062963 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:56655965 (GRCh38)
19:57167333 (GRCh37)
Canonical SPDI:: NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:56655954:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.3397/1701 (1000Genomes)
HGVS:: NC_000019.10:g.56655965_56655969del, NC_000019.10:g.56655966_56655969del, NC_000019.10:g.56655968_56655969del, NC_000019.10:g.56655969del, NC_000019.10:g.56655969dup, NC_000019.10:g.56655968_56655969dup, NC_000019.10:g.56655967_56655969dup, NC_000019.10:g.56655966_56655969dup, NC_000019.10:g.56655962_56655969dup, NC_000019.10:g.56655960_56655969dup, NC_000019.9:g.57167333_57167337del, NC_000019.9:g.57167334_57167337del, NC_000019.9:g.57167336_57167337del, NC_000019.9:g.57167337del, NC_000019.9:g.57167337dup, NC_000019.9:g.57167336_57167337dup, NC_000019.9:g.57167335_57167337dup, NC_000019.9:g.57167334_57167337dup, NC_000019.9:g.57167330_57167337dup, NC_000019.9:g.57167328_57167337dup, NM_001193628.2:c.*752_*756del, NM_001193628.2:c.*753_*756del, NM_001193628.2:c.*755_*756del, NM_001193628.2:c.*756del, NM_001193628.2:c.*756dup, NM_001193628.2:c.*755_*756dup, NM_001193628.2:c.*754_*756dup, NM_001193628.2:c.*753_*756dup, NM_001193628.2:c.*749_*756dup, NM_001193628.2:c.*747_*756dup, NM_001193628.1:c.*752_*756del, NM_001193628.1:c.*753_*756del, NM_001193628.1:c.*755_*756del, NM_001193628.1:c.*756del, NM_001193628.1:c.*756dup, NM_001193628.1:c.*755_*756dup, NM_001193628.1:c.*754_*756dup, NM_001193628.1:c.*753_*756dup, NM_001193628.1:c.*749_*756dup, NM_001193628.1:c.*747_*756dup, NR_163262.1:n.1548_1552del, NR_163262.1:n.1549_1552del, NR_163262.1:n.1551_1552del, NR_163262.1:n.1552del, NR_163262.1:n.1552dup, NR_163262.1:n.1551_1552dup, NR_163262.1:n.1550_1552dup, NR_163262.1:n.1549_1552dup, NR_163262.1:n.1545_1552dup, NR_163262.1:n.1543_1552dup, NR_163263.1:n.1421_1425del, NR_163263.1:n.1422_1425del, NR_163263.1:n.1424_1425del, NR_163263.1:n.1425del, NR_163263.1:n.1425dup, NR_163263.1:n.1424_1425dup, NR_163263.1:n.1423_1425dup, NR_163263.1:n.1422_1425dup, NR_163263.1:n.1418_1425dup, NR_163263.1:n.1416_1425dup

Select item 14909979744.

rs1490997974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:56643704 (GRCh38)
19:57155072 (GRCh37)
Canonical SPDI:: NC_000019.10:56643703:G:A
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.56643704G>A, NC_000019.9:g.57155072G>A

Select item 14909599675.

rs1490959967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56648238 (GRCh38)
19:57159606 (GRCh37)
Canonical SPDI:: NC_000019.10:56648237:C:T
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.56648238C>T, NC_000019.9:g.57159606C>T

Select item 14908585596.

rs1490858559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56655220 (GRCh38)
19:57166588 (GRCh37)
Canonical SPDI:: NC_000019.10:56655219:T:C
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.56655220T>C, NC_000019.9:g.57166588T>C, NM_001193628.2:c.*7T>C, NM_001193628.1:c.*7T>C, NR_163262.1:n.803T>C, NR_163263.1:n.676T>C

Select item 14904433657.

rs1490443365 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATT>- [Show Flanks]
Chromosome:: 19:56645019 (GRCh38)
19:57156387 (GRCh37)
Canonical SPDI:: NC_000019.10:56645011:ATTTATTTATT:ATTTATT
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATTTATT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.56645015TATT[1], NC_000019.9:g.57156383TATT[1]

Select item 14899026698.

rs1489902669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:56651136 (GRCh38)
19:57162504 (GRCh37)
Canonical SPDI:: NC_000019.10:56651135:G:A
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56651136G>A, NC_000019.9:g.57162504G>A

Select item 14897696869.

rs1489769686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:56643669 (GRCh38)
19:57155037 (GRCh37)
Canonical SPDI:: NC_000019.10:56643668:C:G,NC_000019.10:56643668:C:T
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56643669C>G, NC_000019.10:g.56643669C>T, NC_000019.9:g.57155037C>G, NC_000019.9:g.57155037C>T

Select item 148952772610.

rs1489527726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:56653651 (GRCh38)
19:57165019 (GRCh37)
Canonical SPDI:: NC_000019.10:56653650:A:G
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: 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_000019.10:g.56653651A>G, NC_000019.9:g.57165019A>G

Select item 148951354111.

rs1489513541 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:56643019 (GRCh38)
19:57154387 (GRCh37)
Canonical SPDI:: NC_000019.10:56643017:CAC:C
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56643019_56643020del, NC_000019.9:g.57154387_57154388del

Select item 148947745112.

rs1489477451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:56650315 (GRCh38)
19:57161683 (GRCh37)
Canonical SPDI:: NC_000019.10:56650314:A:G
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: 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_000019.10:g.56650315A>G, NC_000019.9:g.57161683A>G

Select item 148942764713.

rs1489427647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:56639109 (GRCh38)
19:57150477 (GRCh37)
Canonical SPDI:: NC_000019.10:56639108:G:T
Gene:: ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.56639109G>T, NC_000019.9:g.57150477G>T

Select item 148935121614.

rs1489351216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:56639406 (GRCh38)
19:57150774 (GRCh37)
Canonical SPDI:: NC_000019.10:56639405:T:G
Gene:: ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56639406T>G, NC_000019.9:g.57150774T>G

Select item 148926169515.

rs1489261695 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:56649776 (GRCh38)
19:57161145 (GRCh37)
Canonical SPDI:: NC_000019.10:56649776:A:AA
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.56649777dup, NC_000019.9:g.57161145dup

Select item 148924644016.

rs1489246440 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 19:56640956 (GRCh38)
19:57152324 (GRCh37)
Canonical SPDI:: NC_000019.10:56640953:ATAAT:AT
Gene:: ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.000054/1 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000038/5 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.56640956_56640958del, NC_000019.9:g.57152324_57152326del

Select item 148920736817.

rs1489207368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:56638069 (GRCh38)
19:57149437 (GRCh37)
Canonical SPDI:: NC_000019.10:56638068:G:A
Gene:: ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.56638069G>A, NC_000019.9:g.57149437G>A, NG_063756.1:g.169G>A

Select item 148913836318.

rs1489138363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:56643116 (GRCh38)
19:57154484 (GRCh37)
Canonical SPDI:: NC_000019.10:56643115:A:C
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00641/76 (ALFA)
C=0.00035/10 (TOMMO)
C=0.00094/6 (1000Genomes)
C=0.06655/191 (KOREAN)
HGVS:: NC_000019.10:g.56643116A>C, NC_000019.9:g.57154484A>C

Select item 148898520419.

rs1488985204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:56648682 (GRCh38)
19:57160050 (GRCh37)
Canonical SPDI:: NC_000019.10:56648681:A:G
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56648682A>G, NC_000019.9:g.57160050A>G

Select item 148886087120.

rs1488860871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:56646127 (GRCh38)
19:57157495 (GRCh37)
Canonical SPDI:: NC_000019.10:56646126:G:A
Gene:: SMIM17 (Varview), ZNF71-SMIM17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.56646127G>A, NC_000019.9:g.57157495G>A

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