SNP Links for Gene (Select 100129128) - SNP

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Select item 14912334411.

rs1491233441 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:73223717 (GRCh38)
6:73933440 (GRCh37)
Canonical SPDI:: NC_000006.12:73223716:TT:
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.73223717_73223718del, NC_000006.11:g.73933440_73933441del, NM_001126063.3:c.*30_*31del, NM_001126063.2:c.*30_*31del, NR_173145.1:n.1596_1597del, NR_173146.1:n.1389_1390del

Select item 14907384602.

rs1490738460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:73224824 (GRCh38)
6:73934547 (GRCh37)
Canonical SPDI:: NC_000006.12:73224823:G:C,NC_000006.12:73224823:G:T
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.001092/2 (Korea1K)
C=0.001275/21 (TOMMO)
C=0.002053/6 (KOREAN)
HGVS:: NC_000006.12:g.73224824G>C, NC_000006.12:g.73224824G>T, NC_000006.11:g.73934547G>C, NC_000006.11:g.73934547G>T, NG_061695.2:g.1073G>C, NG_061695.2:g.1073G>T

Select item 14901652333.

rs1490165233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:73223787 (GRCh38)
6:73933510 (GRCh37)
Canonical SPDI:: NC_000006.12:73223786:C:T
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.73223787C>T, NC_000006.11:g.73933510C>T, NG_061695.2:g.36C>T, NM_001126063.3:c.348G>A, NM_001126063.2:c.348G>A, NR_173145.1:n.1527G>A, NR_173146.1:n.1320G>A

Select item 14887756994.

rs1488775699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:73223677 (GRCh38)
6:73933400 (GRCh37)
Canonical SPDI:: NC_000006.12:73223676:G:A,NC_000006.12:73223676:G:C
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.73223677G>A, NC_000006.12:g.73223677G>C, NC_000006.11:g.73933400G>A, NC_000006.11:g.73933400G>C, NM_001126063.3:c.*71C>T, NM_001126063.3:c.*71C>G, NM_001126063.2:c.*71C>T, NM_001126063.2:c.*71C>G, NR_173145.1:n.1637C>T, NR_173145.1:n.1637C>G, NR_173146.1:n.1430C>T, NR_173146.1:n.1430C>G

Select item 14882747615.

rs1488274761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73227253 (GRCh38)
6:73936976 (GRCh37)
Canonical SPDI:: NC_000006.12:73227252:T:C
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.73227253T>C, NC_000006.11:g.73936976T>C

Select item 14876222486.

rs1487622248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:73225230 (GRCh38)
6:73934953 (GRCh37)
Canonical SPDI:: NC_000006.12:73225229:G:T
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.73225230G>T, NC_000006.11:g.73934953G>T

Select item 14875676547.

rs1487567654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73226339 (GRCh38)
6:73936062 (GRCh37)
Canonical SPDI:: NC_000006.12:73226338:G:A
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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.73226339G>A, NC_000006.11:g.73936062G>A

Select item 14869792298.

rs1486979229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73223766 (GRCh38)
6:73933489 (GRCh37)
Canonical SPDI:: NC_000006.12:73223765:T:C
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.73223766T>C, NC_000006.11:g.73933489T>C, NG_061695.2:g.15T>C, NM_001126063.3:c.369A>G, NM_001126063.2:c.369A>G, NR_173145.1:n.1548A>G, NR_173146.1:n.1341A>G

Select item 14869680619.

rs1486968061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73224709 (GRCh38)
6:73934432 (GRCh37)
Canonical SPDI:: NC_000006.12:73224708:G:A
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.73224709G>A, NC_000006.11:g.73934432G>A, NG_061695.2:g.958G>A

Select item 148503493610.

rs1485034936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:73224724 (GRCh38)
6:73934447 (GRCh37)
Canonical SPDI:: NC_000006.12:73224723:C:G,NC_000006.12:73224723:C:T
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00009/11 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.73224724C>G, NC_000006.12:g.73224724C>T, NC_000006.11:g.73934447C>G, NC_000006.11:g.73934447C>T, NG_061695.2:g.973C>G, NG_061695.2:g.973C>T

Select item 148329948111.

rs1483299481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:73224785 (GRCh38)
6:73934508 (GRCh37)
Canonical SPDI:: NC_000006.12:73224784:A:C
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000184/3 (ALFA)
C=0.000283/38 (GnomAD)
HGVS:: NC_000006.12:g.73224785A>C, NC_000006.11:g.73934508A>C, NG_061695.2:g.1034A>C

Select item 148315168112.

rs1483151681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73225438 (GRCh38)
6:73935161 (GRCh37)
Canonical SPDI:: NC_000006.12:73225437:G:A
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.73225438G>A, NC_000006.11:g.73935161G>A, NM_001126063.3:c.-30C>T, NM_001126063.2:c.-30C>T

Select item 148239832913.

rs1482398329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:73224215 (GRCh38)
6:73933938 (GRCh37)
Canonical SPDI:: NC_000006.12:73224214:C:T
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.73224215C>T, NC_000006.11:g.73933938C>T, NG_061695.2:g.464C>T, NG_061695.1:g.30C>T, NM_001126063.3:c.246G>A, NM_001126063.2:c.246G>A, NR_173145.1:n.1425G>A, NR_173146.1:n.1218G>A

Select item 148188993214.

rs1481889932 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTA
Chromosome:: no mapping
Canonical SPDI:

Select item 148159927215.

rs1481599272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73225356 (GRCh38)
6:73935079 (GRCh37)
Canonical SPDI:: NC_000006.12:73225355:T:C
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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.73225356T>C, NC_000006.11:g.73935079T>C, NM_001126063.3:c.53A>G, NM_001126063.2:c.53A>G, NR_173145.1:n.1232A>G, NR_173146.1:n.1025A>G, NP_001119535.1:p.Glu18Gly

Select item 148158267016.

rs1481582670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73224547 (GRCh38)
6:73934270 (GRCh37)
Canonical SPDI:: NC_000006.12:73224546:G:A
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.73224547G>A, NC_000006.11:g.73934270G>A, NG_061695.2:g.796G>A, NG_061695.1:g.362G>A

Select item 148093457417.

rs1480934574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:73224241 (GRCh38)
6:73933964 (GRCh37)
Canonical SPDI:: NC_000006.12:73224240:G:A
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.73224241G>A, NC_000006.11:g.73933964G>A, NG_061695.2:g.490G>A, NG_061695.1:g.56G>A, NM_001126063.3:c.220C>T, NM_001126063.2:c.220C>T, NR_173145.1:n.1399C>T, NR_173146.1:n.1192C>T, NP_001119535.1:p.Pro74Ser

Select item 148018837318.

rs1480188373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:73223209 (GRCh38)
6:73932932 (GRCh37)
Canonical SPDI:: NC_000006.12:73223208:C:G
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.73223209C>G, NC_000006.11:g.73932932C>G

Select item 147900847619.

rs1479008476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:73223346 (GRCh38)
6:73933069 (GRCh37)
Canonical SPDI:: NC_000006.12:73223345:C:T
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.73223346C>T, NC_000006.11:g.73933069C>T

Select item 147880603420.

rs1478806034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:73224033 (GRCh38)
6:73933756 (GRCh37)
Canonical SPDI:: NC_000006.12:73224032:C:T
Gene:: KHDC1L (Varview), LOC122539213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.73224033C>T, NC_000006.11:g.73933756C>T, NG_061695.2:g.282C>T

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