SNP Links for Gene (Select 84694) - SNP

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Select item 14909032401.

rs1490903240 [Homo sapiens]

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

Select item 14902985792.

rs1490298579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89895907 (GRCh38)
6:90605626 (GRCh37)
Canonical SPDI:: NC_000006.12:89895906:T:C
Gene:: GJA10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.89895907T>C, NC_000006.11:g.90605626T>C, NW_017363815.1:g.93595T>C, NM_032602.2:c.1439T>C, NM_032602.1:c.1439T>C, NP_115991.1:p.Met480Thr

Select item 14900932423.

rs1490093242 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:89893782 (GRCh38)
6:90603501 (GRCh37)
Canonical SPDI:: NC_000006.12:89893781:G:
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.89893782del, NC_000006.11:g.90603501del, NW_017363815.1:g.91470del

Select item 14900326414.

rs1490032641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:89893954 (GRCh38)
6:90603673 (GRCh37)
Canonical SPDI:: NC_000006.12:89893953:A:G,NC_000006.12:89893953:A:T
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89893954A>G, NC_000006.12:g.89893954A>T, NC_000006.11:g.90603673A>G, NC_000006.11:g.90603673A>T, NW_017363815.1:g.91642A>G, NW_017363815.1:g.91642A>T

Select item 14898649835.

rs1489864983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:89893407 (GRCh38)
6:90603126 (GRCh37)
Canonical SPDI:: NC_000006.12:89893406:G:T
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89893407G>T, NC_000006.11:g.90603126G>T, NW_017363815.1:g.91095G>T

Select item 14898066716.

rs1489806671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89895558 (GRCh38)
6:90605277 (GRCh37)
Canonical SPDI:: NC_000006.12:89895557:A:G
Gene:: GJA10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89895558A>G, NC_000006.11:g.90605277A>G, NW_017363815.1:g.93246A>G, NM_032602.2:c.1090A>G, NM_032602.1:c.1090A>G, NP_115991.1:p.Met364Val

Select item 14884266207.

rs1488426620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:89895215 (GRCh38)
6:90604934 (GRCh37)
Canonical SPDI:: NC_000006.12:89895214:G:A
Gene:: GJA10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.89895215G>A, NC_000006.11:g.90604934G>A, NW_017363815.1:g.92903G>A, NM_032602.2:c.747G>A, NM_032602.1:c.747G>A

Select item 14880980788.

rs1488098078 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTGCGCC>- [Show Flanks]
Chromosome:: 6:89892957 (GRCh38)
6:90602676 (GRCh37)
Canonical SPDI:: NC_000006.12:89892953:GCCACTGCGCC:GCC
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.89892957_89892964del, NC_000006.11:g.90602676_90602683del, NW_017363815.1:g.90645_90652del

Select item 14866272439.

rs1486627243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89893037 (GRCh38)
6:90602756 (GRCh37)
Canonical SPDI:: NC_000006.12:89893036:T:C
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89893037T>C, NC_000006.11:g.90602756T>C, NW_017363815.1:g.90725T>C

Select item 148626858010.

rs1486268580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:89892781 (GRCh38)
6:90602500 (GRCh37)
Canonical SPDI:: NC_000006.12:89892780:C:A
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89892781C>A, NC_000006.11:g.90602500C>A, NW_017363815.1:g.90469C>A

Select item 148538512411.

rs1485385124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:89895644 (GRCh38)
6:90605363 (GRCh37)
Canonical SPDI:: NC_000006.12:89895643:A:T
Gene:: GJA10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89895644A>T, NC_000006.11:g.90605363A>T, NW_017363815.1:g.93332A>T, NM_032602.2:c.1176A>T, NM_032602.1:c.1176A>T

Select item 148430011412.

rs1484300114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:89895998 (GRCh38)
6:90605717 (GRCh37)
Canonical SPDI:: NC_000006.12:89895997:G:A,NC_000006.12:89895997:G:T
Gene:: GJA10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89895998G>A, NC_000006.12:g.89895998G>T, NC_000006.11:g.90605717G>A, NC_000006.11:g.90605717G>T, NW_017363815.1:g.93686G>A, NW_017363815.1:g.93686G>T, NM_032602.2:c.1530G>A, NM_032602.2:c.1530G>T, NM_032602.1:c.1530G>A, NM_032602.1:c.1530G>T

Select item 148341129313.

rs1483411293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89895003 (GRCh38)
6:90604722 (GRCh37)
Canonical SPDI:: NC_000006.12:89895002:T:C
Gene:: GJA10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.89895003T>C, NC_000006.11:g.90604722T>C, NW_017363815.1:g.92691T>C, NM_032602.2:c.535T>C, NM_032602.1:c.535T>C, NP_115991.1:p.Tyr179His

Select item 148322428514.

rs1483224285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89892892 (GRCh38)
6:90602611 (GRCh37)
Canonical SPDI:: NC_000006.12:89892891:A:G
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.89892892A>G, NC_000006.11:g.90602611A>G, NW_017363815.1:g.90580A>G

Select item 148218918415.

rs1482189184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89892859 (GRCh38)
6:90602578 (GRCh37)
Canonical SPDI:: NC_000006.12:89892858:A:G
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000022/3 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.89892859A>G, NC_000006.11:g.90602578A>G, NW_017363815.1:g.90547A>G

Select item 148154696016.

rs1481546960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:89895084 (GRCh38)
6:90604803 (GRCh37)
Canonical SPDI:: NC_000006.12:89895083:A:C,NC_000006.12:89895083:A:G
Gene:: GJA10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.89895084A>C, NC_000006.12:g.89895084A>G, NC_000006.11:g.90604803A>C, NC_000006.11:g.90604803A>G, NW_017363815.1:g.92772A>C, NW_017363815.1:g.92772A>G, NM_032602.2:c.616A>C, NM_032602.2:c.616A>G, NM_032602.1:c.616A>C, NM_032602.1:c.616A>G, NP_115991.1:p.Thr206Pro, NP_115991.1:p.Thr206Ala

Select item 148005697517.

rs1480056975 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:89894082 (GRCh38)
6:90603802 (GRCh37)
Canonical SPDI:: NC_000006.12:89894082:A:AA
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.89894083dup, NC_000006.11:g.90603802dup, NW_017363815.1:g.91771dup

Select item 147973271218.

rs1479732712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89893549 (GRCh38)
6:90603268 (GRCh37)
Canonical SPDI:: NC_000006.12:89893548:T:C
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.89893549T>C, NC_000006.11:g.90603268T>C, NW_017363815.1:g.91237T>C

Select item 147960290519.

rs1479602905 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:89893876 (GRCh38)
6:90603595 (GRCh37)
Canonical SPDI:: NC_000006.12:89893875:G:
Gene:: GJA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89893876del, NC_000006.11:g.90603595del, NW_017363815.1:g.91564del

Select item 147949872920.

rs1479498729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:89894545 (GRCh38)
6:90604264 (GRCh37)
Canonical SPDI:: NC_000006.12:89894544:T:A
Gene:: GJA10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.89894545T>A, NC_000006.11:g.90604264T>A, NW_017363815.1:g.92233T>A, NM_032602.2:c.77T>A, NM_032602.1:c.77T>A, NP_115991.1:p.Leu26Gln

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