SNP Links for Gene (Select 6553) - SNP

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Select item 14915024711.

rs1491502471 [Homo sapiens]

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

Select item 14914587842.

rs1491458784 has merged into rs980874306 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:67267092 (GRCh38)
16:67300995 (GRCh37)
Canonical SPDI:: NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67267081:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.67267092_67267104del, NC_000016.10:g.67267093_67267104del, NC_000016.10:g.67267094_67267104del, NC_000016.10:g.67267095_67267104del, NC_000016.10:g.67267097_67267104del, NC_000016.10:g.67267099_67267104del, NC_000016.10:g.67267100_67267104del, NC_000016.10:g.67267102_67267104del, NC_000016.10:g.67267103_67267104del, NC_000016.10:g.67267104del, NC_000016.10:g.67267104dup, NC_000016.10:g.67267103_67267104dup, NC_000016.10:g.67267102_67267104dup, NC_000016.10:g.67267101_67267104dup, NC_000016.10:g.67267100_67267104dup, NC_000016.10:g.67267099_67267104dup, NC_000016.10:g.67267098_67267104dup, NC_000016.10:g.67267097_67267104dup, NC_000016.10:g.67267096_67267104dup, NC_000016.10:g.67267094_67267104dup, NC_000016.9:g.67300995_67301007del, NC_000016.9:g.67300996_67301007del, NC_000016.9:g.67300997_67301007del, NC_000016.9:g.67300998_67301007del, NC_000016.9:g.67301000_67301007del, NC_000016.9:g.67301002_67301007del, NC_000016.9:g.67301003_67301007del, NC_000016.9:g.67301005_67301007del, NC_000016.9:g.67301006_67301007del, NC_000016.9:g.67301007del, NC_000016.9:g.67301007dup, NC_000016.9:g.67301006_67301007dup, NC_000016.9:g.67301005_67301007dup, NC_000016.9:g.67301004_67301007dup, NC_000016.9:g.67301003_67301007dup, NC_000016.9:g.67301002_67301007dup, NC_000016.9:g.67301001_67301007dup, NC_000016.9:g.67301000_67301007dup, NC_000016.9:g.67300999_67301007dup, NC_000016.9:g.67300997_67301007dup

Select item 14912841143.

rs1491284114 has merged into rs1289032640 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 16:67268714 (GRCh38)
16:67302617 (GRCh37)
Canonical SPDI:: NC_000016.10:67268710:TTTTT:TTT,NC_000016.10:67268710:TTTTT:TTTTTT,NC_000016.10:67268710:TTTTT:TTTTTTT,NC_000016.10:67268710:TTTTT:TTTTTTTT,NC_000016.10:67268710:TTTTT:TTTTTTTTT,NC_000016.10:67268710:TTTTT:TTTTTTTTTT,NC_000016.10:67268710:TTTTT:TTTTTTTTTTT,NC_000016.10:67268710:TTTTT:TTTTTTTTTTTT,NC_000016.10:67268710:TTTTT:TTTTTTTTTTTTT
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.01295/216 (TOMMO)
HGVS:: NC_000016.10:g.67268714_67268715del, NC_000016.10:g.67268715dup, NC_000016.10:g.67268714_67268715dup, NC_000016.10:g.67268713_67268715dup, NC_000016.10:g.67268712_67268715dup, NC_000016.10:g.67268711_67268715dup, NC_000016.10:g.67268715_67268716insTTTTTT, NC_000016.10:g.67268715_67268716insTTTTTTT, NC_000016.10:g.67268715_67268716insTTTTTTTT, NC_000016.9:g.67302617_67302618del, NC_000016.9:g.67302618dup, NC_000016.9:g.67302617_67302618dup, NC_000016.9:g.67302616_67302618dup, NC_000016.9:g.67302615_67302618dup, NC_000016.9:g.67302614_67302618dup, NC_000016.9:g.67302618_67302619insTTTTTT, NC_000016.9:g.67302618_67302619insTTTTTTT, NC_000016.9:g.67302618_67302619insTTTTTTTT

Select item 14909847644.

rs1490984764 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:67253670 (GRCh38)
16:67287573 (GRCh37)
Canonical SPDI:: NC_000016.10:67253669:AT:
Gene:: SLC9A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67253670_67253671del, NC_000016.9:g.67287573_67287574del

Select item 14909165175.

rs1490916517 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:67271667 (GRCh38)
16:67305571 (GRCh37)
Canonical SPDI:: NC_000016.10:67271667:GG:GGG
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.67271669dup, NC_000016.9:g.67305572dup, NM_004594.3:c.*459dup, NM_004594.2:c.*459dup, NM_001323973.2:c.*459dup, NM_001323973.1:c.*459dup, NR_136664.2:n.3178dup, NR_136664.1:n.3285dup, NM_001323975.2:c.*459dup, NM_001323975.1:c.*459dup, NM_001323974.2:c.*459dup, NM_001323974.1:c.*459dup, NR_136665.2:n.2976dup, NR_136665.1:n.3083dup, NR_136666.2:n.2937dup, NR_136666.1:n.3044dup, NM_001323972.2:c.*459dup, NM_001323972.1:c.*459dup, NR_136667.2:n.2862dup, NR_136667.1:n.2969dup, NM_001323971.2:c.*746dup, NM_001323971.1:c.*746dup

Select item 14907851986.

rs1490785198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67262906 (GRCh38)
16:67296809 (GRCh37)
Canonical SPDI:: NC_000016.10:67262905:A:G
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67262906A>G, NC_000016.9:g.67296809A>G, XR_007065092.1:n.3667T>C

Select item 14906052227.

rs1490605222 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:67264779 (GRCh38)
16:67298683 (GRCh37)
Canonical SPDI:: NC_000016.10:67264779:AAAAA:AAAAAA
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.67264784dup, NC_000016.9:g.67298687dup, XR_007065092.1:n.1793dup

Select item 14904078298.

rs1490407829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:67246548 (GRCh38)
16:67280451 (GRCh37)
Canonical SPDI:: NC_000016.10:67246547:C:A,NC_000016.10:67246547:C:T
Gene:: FHOD1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.67246548C>A, NC_000016.10:g.67246548C>T, NC_000016.9:g.67280451C>A, NC_000016.9:g.67280451C>T, NG_029672.1:g.5975G>T, NG_029672.1:g.5975G>A, XM_011523043.3:c.-110G>T, XM_011523043.3:c.-110G>A, XM_011523043.2:c.-110G>T, XM_011523043.2:c.-110G>A, XM_011523043.1:c.-110G>T, XM_011523043.1:c.-110G>A, XM_047434002.1:c.-931G>T, XM_047434002.1:c.-931G>A, XM_047433999.1:c.-110G>T, XM_047433999.1:c.-110G>A

Select item 14903426249.

rs1490342624 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:67271213 (GRCh38)
16:67305117 (GRCh37)
Canonical SPDI:: NC_000016.10:67271213::T
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67271213_67271214insT, NC_000016.9:g.67305116_67305117insT, NM_004594.3:c.*3_*4insT, NM_004594.2:c.*3_*4insT, NM_001323973.2:c.*3_*4insT, NM_001323973.1:c.*3_*4insT, NR_136664.2:n.2722_2723insT, NR_136664.1:n.2829_2830insT, NM_001323975.2:c.*3_*4insT, NM_001323975.1:c.*3_*4insT, NM_001323974.2:c.*3_*4insT, NM_001323974.1:c.*3_*4insT, NR_136665.2:n.2520_2521insT, NR_136665.1:n.2627_2628insT, NR_136666.2:n.2481_2482insT, NR_136666.1:n.2588_2589insT, NM_001323972.2:c.*3_*4insT, NM_001323972.1:c.*3_*4insT, NR_136667.2:n.2406_2407insT, NR_136667.1:n.2513_2514insT, NM_001323971.2:c.*290_*291insT, NM_001323971.1:c.*290_*291insT

Select item 149029237310.

rs1490292373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67262293 (GRCh38)
16:67296196 (GRCh37)
Canonical SPDI:: NC_000016.10:67262292:T:C
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_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_000016.10:g.67262293T>C, NC_000016.9:g.67296196T>C

Select item 149026523611.

rs1490265236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67264390 (GRCh38)
16:67298293 (GRCh37)
Canonical SPDI:: NC_000016.10:67264389:T:C
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67264390T>C, NC_000016.9:g.67298293T>C, NM_004594.3:c.1881T>C, NM_004594.2:c.1881T>C, NM_001323973.2:c.1881T>C, NM_001323973.1:c.1881T>C, NR_136664.2:n.1909T>C, NR_136664.1:n.2016T>C, NM_001323975.2:c.996T>C, NM_001323975.1:c.996T>C, NM_001323974.2:c.996T>C, NM_001323974.1:c.996T>C, NR_136665.2:n.1707T>C, NR_136665.1:n.1814T>C, NR_136666.2:n.1668T>C, NR_136666.1:n.1775T>C, NM_001323972.2:c.1578T>C, NM_001323972.1:c.1578T>C, XR_007065092.1:n.2183A>G, XM_047434519.1:c.*60T>C

Select item 148991972212.

rs1489919722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67246170 (GRCh38)
16:67280073 (GRCh37)
Canonical SPDI:: NC_000016.10:67246169:G:A
Gene:: FHOD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.67246170G>A, NC_000016.9:g.67280073G>A, NG_029672.1:g.6353C>T, XM_047434002.1:c.-553C>T

Select item 148974119213.

rs1489741192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67271177 (GRCh38)
16:67305080 (GRCh37)
Canonical SPDI:: NC_000016.10:67271176:G:A
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67271177G>A, NC_000016.9:g.67305080G>A, NM_004594.3:c.2658G>A, NM_004594.2:c.2658G>A, NM_001323973.2:c.2655G>A, NM_001323973.1:c.2655G>A, NR_136664.2:n.2686G>A, NR_136664.1:n.2793G>A, NM_001323975.2:c.1773G>A, NM_001323975.1:c.1773G>A, NM_001323974.2:c.1770G>A, NM_001323974.1:c.1770G>A, NR_136665.2:n.2484G>A, NR_136665.1:n.2591G>A, NR_136666.2:n.2445G>A, NR_136666.1:n.2552G>A, NM_001323972.2:c.2355G>A, NM_001323972.1:c.2355G>A, NR_136667.2:n.2370G>A, NR_136667.1:n.2477G>A, NM_001323971.2:c.*254G>A, NM_001323971.1:c.*254G>A, NP_004585.1:p.Trp886Ter, NP_001310902.1:p.Trp885Ter, NP_001310904.1:p.Trp591Ter, NP_001310903.1:p.Trp590Ter, NP_001310901.1:p.Trp785Ter

Select item 148971569014.

rs1489715690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67270612 (GRCh38)
16:67304515 (GRCh37)
Canonical SPDI:: NC_000016.10:67270611:A:G
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000016.10:g.67270612A>G, NC_000016.9:g.67304515A>G

Select item 148970079315.

rs1489700793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67251289 (GRCh38)
16:67285192 (GRCh37)
Canonical SPDI:: NC_000016.10:67251288:C:T
Gene:: SLC9A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67251289C>T, NC_000016.9:g.67285192C>T, NG_029672.1:g.1234G>A

Select item 148966334916.

rs1489663349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:67252294 (GRCh38)
16:67286197 (GRCh37)
Canonical SPDI:: NC_000016.10:67252293:A:T
Gene:: SLC9A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00055/1 (Korea1K)
HGVS:: NC_000016.10:g.67252294A>T, NC_000016.9:g.67286197A>T, NG_029672.1:g.229T>A

Select item 148964714717.

rs1489647147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67265679 (GRCh38)
16:67299582 (GRCh37)
Canonical SPDI:: NC_000016.10:67265678:T:C
Gene:: SLC9A5 (Varview), LOC124903701 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67265679T>C, NC_000016.9:g.67299582T>C, XR_007065092.1:n.894A>G

Select item 148962382218.

rs1489623822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67256216 (GRCh38)
16:67290119 (GRCh37)
Canonical SPDI:: NC_000016.10:67256215:G:A
Gene:: SLC9A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67256216G>A, NC_000016.9:g.67290119G>A

Select item 148952598719.

rs1489525987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:67247909 (GRCh38)
16:67281812 (GRCh37)
Canonical SPDI:: NC_000016.10:67247908:C:A,NC_000016.10:67247908:C:T
Gene:: SLC9A5 (Varview), FHOD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.67247909C>A, NC_000016.10:g.67247909C>T, NC_000016.9:g.67281812C>A, NC_000016.9:g.67281812C>T, NG_029672.1:g.4614G>T, NG_029672.1:g.4614G>A

Select item 148951629320.

rs1489516293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67245614 (GRCh38)
16:67279517 (GRCh37)
Canonical SPDI:: NC_000016.10:67245613:G:A
Gene:: FHOD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.67245614G>A, NC_000016.9:g.67279517G>A, NG_029672.1:g.6909C>T, XM_047434002.1:c.-93C>T, XM_047434001.1:c.-93C>T

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