SNP Links for Gene (Select 50651) - SNP

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Select item 14914630811.

rs1491463081 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGTCAGGGGCGGAGGAAAGCC [Show Flanks]
Chromosome:: 1:8318774 (GRCh38)
1:8378835 (GRCh37)
Canonical SPDI:: NC_000001.11:8318774:GAGTCAGGGGCGGAGGAAAGCC:GAGTCAGGGGCGGAGGAAAGCCGAGTCAGGGGCGGAGGAAAGCC
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGTCAGGGGCGGAGGAAAGCCGAGTCAGGGGCGGAGGAAAGCC=0.000071/1 (ALFA)
GAGTCAGGGGCGGAGGAAAGCC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.8318775_8318796dup, NC_000001.10:g.8378835_8378856dup, NG_034025.1:g.5691_5712dup

Select item 14912996162.

rs1491299616 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:8318776 (GRCh38)
1:8378836 (GRCh37)
Canonical SPDI:: NC_000001.11:8318773:AGAG:AG
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.8318774AG[1], NC_000001.10:g.8378834AG[1], NG_034025.1:g.5690AG[1]

Select item 14910087933.

rs1491008793 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:8342913 (GRCh38)
1:8402973 (GRCh37)
Canonical SPDI:: NC_000001.11:8342911:AGA:A
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.8342913_8342914del, NC_000001.10:g.8402973_8402974del, NG_034025.1:g.29829_29830del

Select item 14910024554.

rs1491002455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:8332933 (GRCh38)
1:8392993 (GRCh37)
Canonical SPDI:: NC_000001.11:8332932:C:A,NC_000001.11:8332932:C:T
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.8332933C>A, NC_000001.11:g.8332933C>T, NC_000001.10:g.8392993C>A, NC_000001.10:g.8392993C>T, NG_034025.1:g.19849C>A, NG_034025.1:g.19849C>T

Select item 14909513995.

rs1490951399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:8333715 (GRCh38)
1:8393775 (GRCh37)
Canonical SPDI:: NC_000001.11:8333714:G:A
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.8333715G>A, NC_000001.10:g.8393775G>A, NG_034025.1:g.20631G>A

Select item 14909019366.

rs1490901936 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:8320714 (GRCh38)
1:8380774 (GRCh37)
Canonical SPDI:: NC_000001.11:8320713:C:
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.8320714del, NC_000001.10:g.8380774del, NG_034025.1:g.7630del

Select item 14908464217.

rs1490846421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:8319017 (GRCh38)
1:8379077 (GRCh37)
Canonical SPDI:: NC_000001.11:8319016:A:C,NC_000001.11:8319016:A:T
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.8319017A>C, NC_000001.11:g.8319017A>T, NC_000001.10:g.8379077A>C, NC_000001.10:g.8379077A>T, NG_034025.1:g.5933A>C, NG_034025.1:g.5933A>T

Select item 14905772248.

rs1490577224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:8324714 (GRCh38)
1:8384774 (GRCh37)
Canonical SPDI:: NC_000001.11:8324713:A:G
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.8324714A>G, NC_000001.10:g.8384774A>G, NG_034025.1:g.11630A>G, NM_001080397.3:c.385A>G, NM_001080397.2:c.487A>G, NM_001080397.1:c.385A>G, NM_001379614.1:c.385A>G, NM_001379615.1:c.385A>G, NM_001379616.1:c.385A>G, XM_047421726.1:c.-181A>G, NP_001073866.3:p.Ser129Gly, NP_001366543.1:p.Ser129Gly, NP_001366544.1:p.Ser129Gly, NP_001366545.1:p.Ser129Gly

Select item 14904174379.

rs1490417437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:8326550 (GRCh38)
1:8386610 (GRCh37)
Canonical SPDI:: NC_000001.11:8326549:G:C
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.8326550G>C, NC_000001.10:g.8386610G>C, NG_034025.1:g.13466G>C

Select item 149039070710.

rs1490390707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:8339668 (GRCh38)
1:8399728 (GRCh37)
Canonical SPDI:: NC_000001.11:8339667:G:A
Gene:: SLC45A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.8339668G>A, NC_000001.10:g.8399728G>A, NG_034025.1:g.26584G>A, NM_001080397.3:c.1950G>A, NM_001080397.2:c.2052G>A, NM_001080397.1:c.1950G>A, NM_001379614.1:c.1974G>A, NM_001379615.1:c.1881G>A, NM_001379616.1:c.1857G>A, XM_047421726.1:c.1368G>A, NM_001379617.1:c.1368G>A, NM_001379618.1:c.1344G>A

Select item 149016192411.

rs1490161924 has merged into rs60069512 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:8341209 (GRCh38)
1:8401269 (GRCh37)
Canonical SPDI:: NC_000001.11:8341199:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:8341199:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:8341199:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:8341199:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:8341199:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:8341199:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:8341199:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.002346/621 (TOPMED)
-=0.005394/20 (TWINSUK)
-=0.005708/22 (ALSPAC)
HGVS:: NC_000001.11:g.8341209_8341216del, NC_000001.11:g.8341210_8341216del, NC_000001.11:g.8341214_8341216del, NC_000001.11:g.8341215_8341216del, NC_000001.11:g.8341216del, NC_000001.11:g.8341216dup, NC_000001.11:g.8341215_8341216dup, NC_000001.10:g.8401269_8401276del, NC_000001.10:g.8401270_8401276del, NC_000001.10:g.8401274_8401276del, NC_000001.10:g.8401275_8401276del, NC_000001.10:g.8401276del, NC_000001.10:g.8401276dup, NC_000001.10:g.8401275_8401276dup, NG_034025.1:g.28125_28132del, NG_034025.1:g.28126_28132del, NG_034025.1:g.28130_28132del, NG_034025.1:g.28131_28132del, NG_034025.1:g.28132del, NG_034025.1:g.28132dup, NG_034025.1:g.28131_28132dup

Select item 149010948312.

rs1490109483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:8341744 (GRCh38)
1:8401804 (GRCh37)
Canonical SPDI:: NC_000001.11:8341743:G:A
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.8341744G>A, NC_000001.10:g.8401804G>A, NG_034025.1:g.28660G>A

Select item 149005650413.

rs1490056504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:8328568 (GRCh38)
1:8388628 (GRCh37)
Canonical SPDI:: NC_000001.11:8328567:G:A,NC_000001.11:8328567:G:T
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000779/13 (TOMMO)
A=0.001027/3 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.8328568G>A, NC_000001.11:g.8328568G>T, NC_000001.10:g.8388628G>A, NC_000001.10:g.8388628G>T, NG_034025.1:g.15484G>A, NG_034025.1:g.15484G>T

Select item 148983099414.

rs1489830994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:8320531 (GRCh38)
1:8380591 (GRCh37)
Canonical SPDI:: NC_000001.11:8320530:C:T
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000001.11:g.8320531C>T, NC_000001.10:g.8380591C>T, NG_034025.1:g.7447C>T

Select item 148980662415.

rs1489806624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:8334056 (GRCh38)
1:8394116 (GRCh37)
Canonical SPDI:: NC_000001.11:8334055:G:A
Gene:: SLC45A1 (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)
HGVS:: NC_000001.11:g.8334056G>A, NC_000001.10:g.8394116G>A, NG_034025.1:g.20972G>A

Select item 148963114816.

rs1489631148 has merged into rs57414432 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 1:8320707 (GRCh38)
1:8380767 (GRCh37)
Canonical SPDI:: NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:8320692:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000001.11:g.8320693AC[7], NC_000001.11:g.8320693AC[9], NC_000001.11:g.8320693AC[10], NC_000001.11:g.8320693AC[11], NC_000001.11:g.8320693AC[12], NC_000001.11:g.8320693AC[13], NC_000001.11:g.8320693AC[14], NC_000001.11:g.8320693AC[15], NC_000001.11:g.8320693AC[16], NC_000001.11:g.8320693AC[17], NC_000001.11:g.8320693AC[18], NC_000001.11:g.8320693AC[19], NC_000001.11:g.8320693AC[20], NC_000001.11:g.8320693AC[22], NC_000001.11:g.8320693AC[23], NC_000001.11:g.8320693AC[24], NC_000001.11:g.8320693AC[25], NC_000001.11:g.8320693AC[26], NC_000001.11:g.8320693AC[27], NC_000001.11:g.8320693AC[28], NC_000001.10:g.8380753AC[7], NC_000001.10:g.8380753AC[9], NC_000001.10:g.8380753AC[10], NC_000001.10:g.8380753AC[11], NC_000001.10:g.8380753AC[12], NC_000001.10:g.8380753AC[13], NC_000001.10:g.8380753AC[14], NC_000001.10:g.8380753AC[15], NC_000001.10:g.8380753AC[16], NC_000001.10:g.8380753AC[17], NC_000001.10:g.8380753AC[18], NC_000001.10:g.8380753AC[19], NC_000001.10:g.8380753AC[20], NC_000001.10:g.8380753AC[22], NC_000001.10:g.8380753AC[23], NC_000001.10:g.8380753AC[24], NC_000001.10:g.8380753AC[25], NC_000001.10:g.8380753AC[26], NC_000001.10:g.8380753AC[27], NC_000001.10:g.8380753AC[28], NG_034025.1:g.7609AC[7], NG_034025.1:g.7609AC[9], NG_034025.1:g.7609AC[10], NG_034025.1:g.7609AC[11], NG_034025.1:g.7609AC[12], NG_034025.1:g.7609AC[13], NG_034025.1:g.7609AC[14], NG_034025.1:g.7609AC[15], NG_034025.1:g.7609AC[16], NG_034025.1:g.7609AC[17], NG_034025.1:g.7609AC[18], NG_034025.1:g.7609AC[19], NG_034025.1:g.7609AC[20], NG_034025.1:g.7609AC[22], NG_034025.1:g.7609AC[23], NG_034025.1:g.7609AC[24], NG_034025.1:g.7609AC[25], NG_034025.1:g.7609AC[26], NG_034025.1:g.7609AC[27], NG_034025.1:g.7609AC[28]

Select item 148961904317.

rs1489619043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:8322267 (GRCh38)
1:8382327 (GRCh37)
Canonical SPDI:: NC_000001.11:8322266:G:C,NC_000001.11:8322266:G:T
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.8322267G>C, NC_000001.11:g.8322267G>T, NC_000001.10:g.8382327G>C, NC_000001.10:g.8382327G>T, NG_034025.1:g.9183G>C, NG_034025.1:g.9183G>T

Select item 148951501218.

rs1489515012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:8332087 (GRCh38)
1:8392147 (GRCh37)
Canonical SPDI:: NC_000001.11:8332086:C:T
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.8332087C>T, NC_000001.10:g.8392147C>T, NG_034025.1:g.19003C>T

Select item 148948314919.

rs1489483149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:8331247 (GRCh38)
1:8391307 (GRCh37)
Canonical SPDI:: NC_000001.11:8331246:T:A
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00031/2 (1000Genomes)
HGVS:: NC_000001.11:g.8331247T>A, NC_000001.10:g.8391307T>A, NG_034025.1:g.18163T>A

Select item 148948268720.

rs1489482687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:8324534 (GRCh38)
1:8384594 (GRCh37)
Canonical SPDI:: NC_000001.11:8324533:C:G
Gene:: SLC45A1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.8324534C>G, NC_000001.10:g.8384594C>G, NG_034025.1:g.11450C>G, NM_001080397.3:c.205C>G, NM_001080397.2:c.307C>G, NM_001080397.1:c.205C>G, NM_001379614.1:c.205C>G, NM_001379615.1:c.205C>G, NM_001379616.1:c.205C>G, NP_001073866.3:p.Pro69Ala, NP_001366543.1:p.Pro69Ala, NP_001366544.1:p.Pro69Ala, NP_001366545.1:p.Pro69Ala

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