SNP Links for Gene (Select 80095) - SNP

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Select item 14914708061.

rs1491470806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 19:58003957 (GRCh38)
19:58515326 (GRCh37)
Canonical SPDI:: NC_000019.10:58003957:GGG:GGGGG
Gene:: ZNF606 (Varview), LOC100128398 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000071/1 (ALFA)
GG=0.000034/9 (TOPMED)
GG=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.58003959_58003960dup, NC_000019.9:g.58515327_58515328dup, NG_053170.1:g.4388_4389dup

Select item 14914518862.

rs1491451886 has merged into rs55983296 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 19:57980848 (GRCh38)
19:58492216 (GRCh37)
Canonical SPDI:: NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57980834:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
A=0.375/15 (GENOME_DK)
HGVS:: NC_000019.10:g.57980848_57980854del, NC_000019.10:g.57980850_57980854del, NC_000019.10:g.57980851_57980854del, NC_000019.10:g.57980852_57980854del, NC_000019.10:g.57980853_57980854del, NC_000019.10:g.57980854del, NC_000019.10:g.57980854dup, NC_000019.10:g.57980853_57980854dup, NC_000019.10:g.57980852_57980854dup, NC_000019.9:g.58492216_58492222del, NC_000019.9:g.58492218_58492222del, NC_000019.9:g.58492219_58492222del, NC_000019.9:g.58492220_58492222del, NC_000019.9:g.58492221_58492222del, NC_000019.9:g.58492222del, NC_000019.9:g.58492222dup, NC_000019.9:g.58492221_58492222dup, NC_000019.9:g.58492220_58492222dup, NG_053170.1:g.27506_27512del, NG_053170.1:g.27508_27512del, NG_053170.1:g.27509_27512del, NG_053170.1:g.27510_27512del, NG_053170.1:g.27511_27512del, NG_053170.1:g.27512del, NG_053170.1:g.27512dup, NG_053170.1:g.27511_27512dup, NG_053170.1:g.27510_27512dup

Select item 14912934993.

rs1491293499 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:57980834 (GRCh38)
19:58492202 (GRCh37)
Canonical SPDI:: NC_000019.10:57980833:CA:
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.57980834_57980835del, NC_000019.9:g.58492202_58492203del, NG_053170.1:g.27512_27513del

Select item 14907850544.

rs1490785054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:58004798 (GRCh38)
19:58516166 (GRCh37)
Canonical SPDI:: NC_000019.10:58004797:G:C
Gene:: ZNF606 (Varview), LOC100128398 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58004798G>C, NC_000019.9:g.58516166G>C, NG_053170.1:g.3549C>G

Select item 14906975745.

rs1490697574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57980193 (GRCh38)
19:58491561 (GRCh37)
Canonical SPDI:: NC_000019.10:57980192:T:C
Gene:: ZNF606 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57980193T>C, NC_000019.9:g.58491561T>C, NG_053170.1:g.28154A>G, NM_025027.4:c.487A>G, NM_025027.3:c.487A>G, NM_001348025.3:c.13A>G, NM_001348025.2:c.13A>G, NM_001348025.1:c.13A>G, NM_001348022.3:c.487A>G, NM_001348022.2:c.487A>G, NM_001348022.1:c.487A>G, NM_001348023.3:c.217A>G, NM_001348023.2:c.217A>G, NM_001348023.1:c.217A>G, NM_001348024.3:c.217A>G, NM_001348024.2:c.217A>G, NM_001348024.1:c.217A>G, NP_079303.2:p.Arg163Gly, NP_001334954.1:p.Arg5Gly, NP_001334951.1:p.Arg163Gly, NP_001334952.1:p.Arg73Gly, NP_001334953.1:p.Arg73Gly

Select item 14904639736.

rs1490463973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57989106 (GRCh38)
19:58500474 (GRCh37)
Canonical SPDI:: NC_000019.10:57989105:T:C
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.57989106T>C, NC_000019.9:g.58500474T>C, NG_053170.1:g.19241A>G

Select item 14903915897.

rs1490391589 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14902518138.

rs1490251813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57994892 (GRCh38)
19:58506260 (GRCh37)
Canonical SPDI:: NC_000019.10:57994891:G:A
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57994892G>A, NC_000019.9:g.58506260G>A, NG_053170.1:g.13455C>T

Select item 14902446399.

rs1490244639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:57989941 (GRCh38)
19:58501309 (GRCh37)
Canonical SPDI:: NC_000019.10:57989940:A:T
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000142/2 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.57989941A>T, NC_000019.9:g.58501309A>T, NG_053170.1:g.18406T>A

Select item 149003039710.

rs1490030397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57982119 (GRCh38)
19:58493487 (GRCh37)
Canonical SPDI:: NC_000019.10:57982118:T:C
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57982119T>C, NC_000019.9:g.58493487T>C, NG_053170.1:g.26228A>G

Select item 148975416811.

rs1489754168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57987792 (GRCh38)
19:58499160 (GRCh37)
Canonical SPDI:: NC_000019.10:57987791:C:T
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57987792C>T, NC_000019.9:g.58499160C>T, NG_053170.1:g.20555G>A

Select item 148974462012.

rs1489744620 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGACAGGTTCCTGGGCCGCGCCGCC [Show Flanks]
Chromosome:: 19:58002885 (GRCh38)
19:58514254 (GRCh37)
Canonical SPDI:: NC_000019.10:58002885:GCGCCGCCATGACAGGTTCCTGGGCCGCGCCGCC:GCGCCGCCATGACAGGTTCCTGGGCCGCGCCGCCATGACAGGTTCCTGGGCCGCGCCGCC
Gene:: ZNF606 (Varview), LOC100128398 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCCGCCATGACAGGTTCCTGGGCCGCGCCGCCATGACAGGTTCCTGGGCCGCGCCGCC=0./0 (ALFA)
GCGCCGCCATGACAGGTTCCTGGGCC=0.000008/2 (TOPMED)
GCGCCGCCATGACAGGTTCCTGGGCC=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.58002894_58002919dup, NC_000019.9:g.58514262_58514287dup, NG_053170.1:g.5436_5461dup, NM_025027.4:c.-183_-158dup, NM_025027.3:c.-183_-158dup

Select item 148968427113.

rs1489684271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:58001329 (GRCh38)
19:58512697 (GRCh37)
Canonical SPDI:: NC_000019.10:58001328:T:A
Gene:: ZNF606 (Varview), LOC100128398 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58001329T>A, NC_000019.9:g.58512697T>A, NG_053170.1:g.7018A>T, NM_025027.4:c.-10A>T, NM_025027.3:c.-10A>T, NM_001348025.3:c.-489A>T, NM_001348025.2:c.-489A>T, NM_001348025.1:c.-489A>T, NM_001348022.3:c.-10A>T, NM_001348022.2:c.-10A>T, NM_001348022.1:c.-10A>T, NM_001348023.3:c.-191A>T, NM_001348023.2:c.-191A>T, NM_001348023.1:c.-191A>T, NM_001348024.3:c.-191A>T, NM_001348024.2:c.-191A>T, NM_001348024.1:c.-191A>T

Select item 148952462514.

rs1489524625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:57996640 (GRCh38)
19:58508008 (GRCh37)
Canonical SPDI:: NC_000019.10:57996639:T:C,NC_000019.10:57996639:T:G
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57996640T>C, NC_000019.10:g.57996640T>G, NC_000019.9:g.58508008T>C, NC_000019.9:g.58508008T>G, NG_053170.1:g.11707A>G, NG_053170.1:g.11707A>C

Select item 148946323915.

rs1489463239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57997560 (GRCh38)
19:58508928 (GRCh37)
Canonical SPDI:: NC_000019.10:57997559:G:T
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_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_000019.10:g.57997560G>T, NC_000019.9:g.58508928G>T, NG_053170.1:g.10787C>A

Select item 148942663416.

rs1489426634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:57993809 (GRCh38)
19:58505177 (GRCh37)
Canonical SPDI:: NC_000019.10:57993808:C:A,NC_000019.10:57993808:C:G
Gene:: ZNF606 (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.57993809C>A, NC_000019.10:g.57993809C>G, NC_000019.9:g.58505177C>A, NC_000019.9:g.58505177C>G, NG_053170.1:g.14538G>T, NG_053170.1:g.14538G>C

Select item 148928497417.

rs1489284974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57982561 (GRCh38)
19:58493929 (GRCh37)
Canonical SPDI:: NC_000019.10:57982560:T:C
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57982561T>C, NC_000019.9:g.58493929T>C, NG_053170.1:g.25786A>G

Select item 148896158918.

rs1488961589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57988523 (GRCh38)
19:58499891 (GRCh37)
Canonical SPDI:: NC_000019.10:57988522:C:T
Gene:: ZNF606 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.57988523C>T, NC_000019.9:g.58499891C>T, NG_053170.1:g.19824G>A

Select item 148892106319.

rs1488921063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57979009 (GRCh38)
19:58490377 (GRCh37)
Canonical SPDI:: NC_000019.10:57979008:T:C
Gene:: ZNF606 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57979009T>C, NC_000019.9:g.58490377T>C, NG_053170.1:g.29338A>G, NM_025027.4:c.1671A>G, NM_025027.3:c.1671A>G, NM_001348025.3:c.1197A>G, NM_001348025.2:c.1197A>G, NM_001348025.1:c.1197A>G, NM_001348022.3:c.1671A>G, NM_001348022.2:c.1671A>G, NM_001348022.1:c.1671A>G, NM_001348023.3:c.1401A>G, NM_001348023.2:c.1401A>G, NM_001348023.1:c.1401A>G, NM_001348024.3:c.1401A>G, NM_001348024.2:c.1401A>G, NM_001348024.1:c.1401A>G

Select item 148886362820.

rs1488863628 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:58003944 (GRCh38)
19:58515312 (GRCh37)
Canonical SPDI:: NC_000019.10:58003941:CTCT:CT
Gene:: ZNF606 (Varview), LOC100128398 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
HGVS:: NC_000019.10:g.58003942CT[1], NC_000019.9:g.58515310CT[1], NG_053170.1:g.4402AG[1]

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