SNP Links for Gene (Select 388242) - SNP

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Select item 14911951681.

rs1491195168 has merged into rs797001730 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 16:29467974 (GRCh38)
16:29479295 (GRCh37)
Canonical SPDI:: NC_000016.10:29467964:CCCCCCCCCCCCC:CCCCCCCCC,NC_000016.10:29467964:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000016.10:29467964:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000016.10:29467964:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000016.10:29467964:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000016.10:29467964:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: LOC388242 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
CC=0.9987/4736 (TOMMO)
HGVS:: NC_000016.10:g.29467974_29467977del, NC_000016.10:g.29467975_29467977del, NC_000016.10:g.29467976_29467977del, NC_000016.10:g.29467977del, NC_000016.10:g.29467977dup, NC_000016.10:g.29467976_29467977dup, NC_000016.9:g.29479295_29479298del, NC_000016.9:g.29479296_29479298del, NC_000016.9:g.29479297_29479298del, NC_000016.9:g.29479298del, NC_000016.9:g.29479298dup, NC_000016.9:g.29479297_29479298dup

Select item 14887135372.

rs1488713537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29469559 (GRCh38)
16:29480880 (GRCh37)
Canonical SPDI:: NC_000016.10:29469558:G:A
Gene:: LOC388242 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29469559G>A, NC_000016.9:g.29480880G>A

Select item 14885786813.

rs1488578681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29469451 (GRCh38)
16:29480772 (GRCh37)
Canonical SPDI:: NC_000016.10:29469450:C:T
Gene:: LOC388242 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.0001/10 (GnomAD)
T=0.00039/7 (TOMMO)
HGVS:: NC_000016.10:g.29469451C>T, NC_000016.9:g.29480772C>T

Select item 14876341864.

rs1487634186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29468666 (GRCh38)
16:29479987 (GRCh37)
Canonical SPDI:: NC_000016.10:29468665:G:A
Gene:: LOC388242 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.29468666G>A, NC_000016.9:g.29479987G>A

Select item 14869952455.

rs1486995245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29464471 (GRCh38)
16:29475792 (GRCh37)
Canonical SPDI:: NC_000016.10:29464470:G:A
Gene:: LOC388242 (Varview), SULT1A4 (Varview), SLX1B-SULT1A4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.29464471G>A, NC_000016.9:g.29475792G>A, NM_001017390.3:c.784G>A, NM_001017390.2:c.784G>A, NR_037609.1:n.1705G>A, NM_001017389.1:c.784G>A, NM_001017391.1:c.784G>A, NP_001017390.1:p.Gly262Arg

Select item 14851323396.

rs1485132339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29464515 (GRCh38)
16:29475836 (GRCh37)
Canonical SPDI:: NC_000016.10:29464514:C:T
Gene:: LOC388242 (Varview), SULT1A4 (Varview), SLX1B-SULT1A4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
T=0.00086/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29464515C>T, NC_000016.9:g.29475836C>T, NM_001017390.3:c.828C>T, NM_001017390.2:c.828C>T, NR_037609.1:n.1749C>T, NM_001017389.1:c.828C>T, NM_001017391.1:c.828C>T

Select item 14842022867.

rs1484202286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29468351 (GRCh38)
16:29479672 (GRCh37)
Canonical SPDI:: NC_000016.10:29468350:A:G
Gene:: LOC388242 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.29468351A>G, NC_000016.9:g.29479672A>G

Select item 14821571728.

rs1482157172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29467942 (GRCh38)
16:29479263 (GRCh37)
Canonical SPDI:: NC_000016.10:29467941:A:G
Gene:: LOC388242 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.29467942A>G, NC_000016.9:g.29479263A>G

Select item 14746469099.

rs1474646909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:29467978 (GRCh38)
16:29479299 (GRCh37)
Canonical SPDI:: NC_000016.10:29467977:A:C,NC_000016.10:29467977:A:T
Gene:: LOC388242 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00048/1 (GnomAD)
C=0.0007/4 (TOMMO)
HGVS:: NC_000016.10:g.29467978A>C, NC_000016.10:g.29467978A>T, NC_000016.9:g.29479299A>C, NC_000016.9:g.29479299A>T

Select item 147267068710.

rs1472670687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29465246 (GRCh38)
16:29476567 (GRCh37)
Canonical SPDI:: NC_000016.10:29465245:G:A
Gene:: LOC388242 (Varview), SULT1A4 (Varview), SLX1B-SULT1A4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.29465246G>A, NC_000016.9:g.29476567G>A, NR_002556.1:n.1200C>T

Select item 147000510511.

rs1470005105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29466843 (GRCh38)
16:29478164 (GRCh37)
Canonical SPDI:: NC_000016.10:29466842:C:T
Gene:: LOC388242 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.29466843C>T, NC_000016.9:g.29478164C>T

Select item 146918909312.

rs1469189093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29464724 (GRCh38)
16:29476045 (GRCh37)
Canonical SPDI:: NC_000016.10:29464723:G:A
Gene:: LOC388242 (Varview), SULT1A4 (Varview), SLX1B-SULT1A4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.29464724G>A, NC_000016.9:g.29476045G>A, NM_001017390.3:c.*149G>A, NM_001017390.2:c.*149G>A, NR_037609.1:n.1958G>A, NM_001017389.1:c.*149G>A, NM_001017391.1:c.*149G>A

Select item 146650334013.

rs1466503340 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:29467981 (GRCh38)
16:29479302 (GRCh37)
Canonical SPDI:: NC_000016.10:29467980:T:
Gene:: LOC388242 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.00035/4 (TOMMO)
HGVS:: NC_000016.10:g.29467981del, NC_000016.9:g.29479302del

Select item 146538883114.

rs1465388831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29465079 (GRCh38)
16:29476400 (GRCh37)
Canonical SPDI:: NC_000016.10:29465078:G:A
Gene:: LOC388242 (Varview), SULT1A4 (Varview), SLX1B-SULT1A4 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.29465079G>A, NC_000016.9:g.29476400G>A, NR_002556.1:n.1367C>T

Select item 146417544415.

rs1464175444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29469325 (GRCh38)
16:29480646 (GRCh37)
Canonical SPDI:: NC_000016.10:29469324:G:A
Gene:: LOC388242 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.29469325G>A, NC_000016.9:g.29480646G>A

Select item 146185316216.

rs1461853162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29467049 (GRCh38)
16:29478370 (GRCh37)
Canonical SPDI:: NC_000016.10:29467048:C:T
Gene:: LOC388242 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.29467049C>T, NC_000016.9:g.29478370C>T, NR_002556.1:n.530G>A

Select item 145958305617.

rs1459583056 has merged into rs149050817 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT,TTTT [Show Flanks]
Chromosome:: 16:29468390 (GRCh38)
16:29479711 (GRCh37)
Canonical SPDI:: NC_000016.10:29468389:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29468389:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29468389:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:29468389:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC388242 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.29468415del, NC_000016.10:g.29468415dup, NC_000016.10:g.29468414_29468415dup, NC_000016.10:g.29468413_29468415dup, NC_000016.9:g.29479736del, NC_000016.9:g.29479736dup, NC_000016.9:g.29479735_29479736dup, NC_000016.9:g.29479734_29479736dup

Select item 145929509018.

rs1459295090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29469383 (GRCh38)
16:29480704 (GRCh37)
Canonical SPDI:: NC_000016.10:29469382:G:A
Gene:: LOC388242 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.29469383G>A, NC_000016.9:g.29480704G>A

Select item 145607495519.

rs1456074955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:29469375 (GRCh38)
16:29480696 (GRCh37)
Canonical SPDI:: NC_000016.10:29469374:G:A,NC_000016.10:29469374:G:T
Gene:: LOC388242 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00699/112 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00515/33 (1000Genomes)
A=0.00837/267 (GnomAD)
HGVS:: NC_000016.10:g.29469375G>A, NC_000016.10:g.29469375G>T, NC_000016.9:g.29480696G>A, NC_000016.9:g.29480696G>T

Select item 145552527820.

rs1455525278 [Homo sapiens]

Variant type:: DEL
Alleles:: GTC>- [Show Flanks]
Chromosome:: 16:29466759 (GRCh38)
16:29478080 (GRCh37)
Canonical SPDI:: NC_000016.10:29466758:GTC:
Gene:: LOC388242 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000016.10:g.29466759_29466761del, NC_000016.9:g.29478080_29478082del, NR_002556.1:n.729_731del

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