SNP Links for Gene (Select 3770) - SNP

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Select item 14913248641.

rs1491324864 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:48461528 (GRCh38)
19:48964785 (GRCh37)
Canonical SPDI:: NC_000019.10:48461527:CA:
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.48461528_48461529del, NC_000019.9:g.48964785_48964786del, NM_170720.1:c.-197_-196del

Select item 14910082152.

rs1491008215 has merged into rs34990679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:48458947 (GRCh38)
19:48962204 (GRCh37)
Canonical SPDI:: NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48458935:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000019.10:g.48458947_48458959del, NC_000019.10:g.48458948_48458959del, NC_000019.10:g.48458949_48458959del, NC_000019.10:g.48458950_48458959del, NC_000019.10:g.48458952_48458959del, NC_000019.10:g.48458953_48458959del, NC_000019.10:g.48458954_48458959del, NC_000019.10:g.48458955_48458959del, NC_000019.10:g.48458956_48458959del, NC_000019.10:g.48458957_48458959del, NC_000019.10:g.48458958_48458959del, NC_000019.10:g.48458959del, NC_000019.10:g.48458959dup, NC_000019.10:g.48458958_48458959dup, NC_000019.10:g.48458957_48458959dup, NC_000019.10:g.48458956_48458959dup, NC_000019.10:g.48458955_48458959dup, NC_000019.10:g.48458953_48458959dup, NC_000019.10:g.48458952_48458959dup, NC_000019.10:g.48458943_48458959dup, NC_000019.9:g.48962204_48962216del, NC_000019.9:g.48962205_48962216del, NC_000019.9:g.48962206_48962216del, NC_000019.9:g.48962207_48962216del, NC_000019.9:g.48962209_48962216del, NC_000019.9:g.48962210_48962216del, NC_000019.9:g.48962211_48962216del, NC_000019.9:g.48962212_48962216del, NC_000019.9:g.48962213_48962216del, NC_000019.9:g.48962214_48962216del, NC_000019.9:g.48962215_48962216del, NC_000019.9:g.48962216del, NC_000019.9:g.48962216dup, NC_000019.9:g.48962215_48962216dup, NC_000019.9:g.48962214_48962216dup, NC_000019.9:g.48962213_48962216dup, NC_000019.9:g.48962212_48962216dup, NC_000019.9:g.48962210_48962216dup, NC_000019.9:g.48962209_48962216dup, NC_000019.9:g.48962200_48962216dup

Select item 14907241283.

rs1490724128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48462220 (GRCh38)
19:48965477 (GRCh37)
Canonical SPDI:: NC_000019.10:48462219:G:A
Gene:: KCNJ14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48462220G>A, NC_000019.9:g.48965477G>A, NM_013348.4:c.496G>A, NM_013348.3:c.496G>A, NM_170720.1:c.496G>A, NP_037480.1:p.Val166Met

Select item 14904738194.

rs1490473819 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAG>- [Show Flanks]
Chromosome:: 19:48458922 (GRCh38)
19:48962179 (GRCh37)
Canonical SPDI:: NC_000019.10:48458917:TGAGTGAG:TGAG
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGAGTGAG=0.000084/1 (ALFA)
-=0.000047/5 (GnomAD)
HGVS:: NC_000019.10:g.48458918TGAG[1], NC_000019.9:g.48962175TGAG[1]

Select item 14903277785.

rs1490327778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48458412 (GRCh38)
19:48961669 (GRCh37)
Canonical SPDI:: NC_000019.10:48458411:G:T
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48458412G>T, NC_000019.9:g.48961669G>T

Select item 14902579766.

rs1490257976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48459135 (GRCh38)
19:48962392 (GRCh37)
Canonical SPDI:: NC_000019.10:48459134:G:A
Gene:: KCNJ14 (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_000019.10:g.48459135G>A, NC_000019.9:g.48962392G>A

Select item 14902347037.

rs1490234703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48462003 (GRCh38)
19:48965260 (GRCh37)
Canonical SPDI:: NC_000019.10:48462002:C:T
Gene:: KCNJ14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48462003C>T, NC_000019.9:g.48965260C>T, NM_013348.4:c.279C>T, NM_013348.3:c.279C>T, NM_170720.1:c.279C>T

Select item 14897970238.

rs1489797023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48464977 (GRCh38)
19:48968234 (GRCh37)
Canonical SPDI:: NC_000019.10:48464976:T:C
Gene:: KCNJ14 (Varview)
Functional Consequence:: 3_prime_UTR_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_000019.10:g.48464977T>C, NC_000019.9:g.48968234T>C, NM_013348.4:c.*200T>C, NM_013348.3:c.*200T>C, NM_170720.1:c.*200T>C

Select item 14893676649.

rs1489367664 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:48461551 (GRCh38)
19:48964808 (GRCh37)
Canonical SPDI:: NC_000019.10:48461550:T:
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.48461551del, NC_000019.9:g.48964808del, NM_170720.1:c.-174del

Select item 148930719610.

rs1489307196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48453869 (GRCh38)
19:48957126 (GRCh37)
Canonical SPDI:: NC_000019.10:48453868:T:C
Gene:: KCNJ14 (Varview), GRWD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.48453869T>C, NC_000019.9:g.48957126T>C, NG_046925.1:g.13097T>C, NM_031485.4:c.*844T>C, NM_031485.3:c.*844T>C

Select item 148907901611.

rs1489079016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48454280 (GRCh38)
19:48957537 (GRCh37)
Canonical SPDI:: NC_000019.10:48454279:G:T
Gene:: KCNJ14 (Varview), GRWD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.48454280G>T, NC_000019.9:g.48957537G>T, NG_046925.1:g.13508G>T, NM_031485.4:c.*1255G>T

Select item 148905637912.

rs1489056379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48462457 (GRCh38)
19:48965714 (GRCh37)
Canonical SPDI:: NC_000019.10:48462456:G:C
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.48462457G>C, NC_000019.9:g.48965714G>C

Select item 148877972113.

rs1488779721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:48457753 (GRCh38)
19:48961010 (GRCh37)
Canonical SPDI:: NC_000019.10:48457752:C:G,NC_000019.10:48457752:C:T
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.48457753C>G, NC_000019.10:g.48457753C>T, NC_000019.9:g.48961010C>G, NC_000019.9:g.48961010C>T

Select item 148857176114.

rs1488571761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48460323 (GRCh38)
19:48963580 (GRCh37)
Canonical SPDI:: NC_000019.10:48460322:A:G
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48460323A>G, NC_000019.9:g.48963580A>G

Select item 148845561215.

rs1488455612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48454563 (GRCh38)
19:48957820 (GRCh37)
Canonical SPDI:: NC_000019.10:48454562:G:C
Gene:: KCNJ14 (Varview), GRWD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48454563G>C, NC_000019.9:g.48957820G>C, NG_046925.1:g.13791G>C, NM_031485.4:c.*1538G>C

Select item 148834193816.

rs1488341938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:48464310 (GRCh38)
19:48967567 (GRCh37)
Canonical SPDI:: NC_000019.10:48464309:A:C,NC_000019.10:48464309:A:G
Gene:: KCNJ14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48464310A>C, NC_000019.10:g.48464310A>G, NC_000019.9:g.48967567A>C, NC_000019.9:g.48967567A>G, NM_013348.4:c.844A>C, NM_013348.4:c.844A>G, NM_013348.3:c.844A>C, NM_013348.3:c.844A>G, NM_170720.1:c.844A>C, NM_170720.1:c.844A>G, NP_037480.1:p.Ser282Arg, NP_037480.1:p.Ser282Gly

Select item 148820138017.

rs1488201380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48461950 (GRCh38)
19:48965207 (GRCh37)
Canonical SPDI:: NC_000019.10:48461949:G:A
Gene:: KCNJ14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00006/1 (TOMMO)
A=0.00034/1 (KOREAN)
HGVS:: NC_000019.10:g.48461950G>A, NC_000019.9:g.48965207G>A, NM_013348.4:c.226G>A, NM_013348.3:c.226G>A, NM_170720.1:c.226G>A, NP_037480.1:p.Asp76Asn

Select item 148773011118.

rs1487730111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48461329 (GRCh38)
19:48964586 (GRCh37)
Canonical SPDI:: NC_000019.10:48461328:C:T
Gene:: KCNJ14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.48461329C>T, NC_000019.9:g.48964586C>T, NM_170720.1:c.-396C>T

Select item 148734966419.

rs1487349664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48462399 (GRCh38)
19:48965656 (GRCh37)
Canonical SPDI:: NC_000019.10:48462398:C:T
Gene:: KCNJ14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48462399C>T, NC_000019.9:g.48965656C>T, NM_013348.4:c.675C>T, NM_013348.3:c.675C>T, NM_170720.1:c.675C>T

Select item 148732974620.

rs1487329746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48459932 (GRCh38)
19:48963189 (GRCh37)
Canonical SPDI:: NC_000019.10:48459931:G:A
Gene:: KCNJ14 (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.48459932G>A, NC_000019.9:g.48963189G>A

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