SNP Links for Gene (Select 100130111) - SNP

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Select item 14912453111.

rs1491245311 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:29674127 (GRCh38)
15:29966332 (GRCh37)
Canonical SPDI:: NC_000015.10:29674127:T:TT
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00004/1 (TOMMO)
T=0.00011/3 (GnomAD)
HGVS:: NC_000015.10:g.29674128dup, NC_000015.9:g.29966332dup, NW_011332701.1:g.1845765dup, NT_187660.1:g.1958249dup

Select item 14911369742.

rs1491136974 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:29674127 (GRCh38)
15:29966331 (GRCh37)
Canonical SPDI:: NC_000015.10:29674126:AT:
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.29674127_29674128del, NC_000015.9:g.29966331_29966332del, NW_011332701.1:g.1845764_1845765del, NT_187660.1:g.1958248_1958249del

Select item 14908341373.

rs1490834137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:29677763 (GRCh38)
15:29969967 (GRCh37)
Canonical SPDI:: NC_000015.10:29677762:G:C
Gene:: LOC100130111 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.29677763G>C, NC_000015.9:g.29969967G>C, NW_011332701.1:g.1849403G>C, NT_187660.1:g.1961887G>C, NR_135221.1:n.1180G>C

Select item 14908230384.

rs1490823038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:29675169 (GRCh38)
15:29967373 (GRCh37)
Canonical SPDI:: NC_000015.10:29675168:C:T
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.29675169C>T, NC_000015.9:g.29967373C>T, NW_011332701.1:g.1846809C>T, NT_187660.1:g.1959293C>T, NM_001387216.1:c.-140G>A, NM_001387215.1:c.-140G>A, NM_001387217.1:c.-140G>A, NR_135221.1:n.235C>T

Select item 14907315635.

rs1490731563 has merged into rs1484838162 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCCCCCCCC,CCCCCCCCCC [Show Flanks]
Chromosome:: 15:29675535 (GRCh38)
15:29967739 (GRCh37)
Canonical SPDI:: NC_000015.10:29675534:CCCCCCC:CCCCCC,NC_000015.10:29675534:CCCCCCC:CCCCCCCC,NC_000015.10:29675534:CCCCCCC:CCCCCCCCCCCCCCC,NC_000015.10:29675534:CCCCCCC:CCCCCCCCCCCCCCCC
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
HGVS:: NC_000015.10:g.29675541del, NC_000015.10:g.29675541dup, NC_000015.10:g.29675541_29675542insCCCCCCCC, NC_000015.10:g.29675541_29675542insCCCCCCCCC, NC_000015.9:g.29967745del, NC_000015.9:g.29967745dup, NC_000015.9:g.29967745_29967746insCCCCCCCC, NC_000015.9:g.29967745_29967746insCCCCCCCCC, NW_011332701.1:g.1847181del, NW_011332701.1:g.1847181dup, NW_011332701.1:g.1847181_1847182insCCCCCCCC, NW_011332701.1:g.1847181_1847182insCCCCCCCCC, NT_187660.1:g.1959665del, NT_187660.1:g.1959665dup, NT_187660.1:g.1959665_1959666insCCCCCCCC, NT_187660.1:g.1959665_1959666insCCCCCCCCC

Select item 14905473066.

rs1490547306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:29677151 (GRCh38)
15:29969355 (GRCh37)
Canonical SPDI:: NC_000015.10:29677150:C:G
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.29677151C>G, NC_000015.9:g.29969355C>G, NW_011332701.1:g.1848791C>G, NT_187660.1:g.1961275C>G

Select item 14900552097.

rs1490055209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:29678151 (GRCh38)
15:29970355 (GRCh37)
Canonical SPDI:: NC_000015.10:29678150:C:T
Gene:: LOC100130111 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.29678151C>T, NC_000015.9:g.29970355C>T, NW_011332701.1:g.1849791C>T, NT_187660.1:g.1962275C>T, NR_135221.1:n.1568C>T

Select item 14893987958.

rs1489398795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:29673118 (GRCh38)
15:29965322 (GRCh37)
Canonical SPDI:: NC_000015.10:29673117:A:G
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.29673118A>G, NC_000015.9:g.29965322A>G, NW_011332701.1:g.1844755A>G, NT_187660.1:g.1957239A>G

Select item 14885856149.

rs1488585614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:29673481 (GRCh38)
15:29965685 (GRCh37)
Canonical SPDI:: NC_000015.10:29673480:C:T
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,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_000015.10:g.29673481C>T, NC_000015.9:g.29965685C>T, NW_011332701.1:g.1845118C>T, NT_187660.1:g.1957602C>T

Select item 148830336710.

rs1488303367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:29676501 (GRCh38)
15:29968705 (GRCh37)
Canonical SPDI:: NC_000015.10:29676500:G:A,NC_000015.10:29676500:G:T
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.29676501G>A, NC_000015.10:g.29676501G>T, NC_000015.9:g.29968705G>A, NC_000015.9:g.29968705G>T, NW_011332701.1:g.1848141G>A, NW_011332701.1:g.1848141G>T, NT_187660.1:g.1960625G>A, NT_187660.1:g.1960625G>T

Select item 148827225011.

rs1488272250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:29675632 (GRCh38)
15:29967836 (GRCh37)
Canonical SPDI:: NC_000015.10:29675631:G:A
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.29675632G>A, NC_000015.9:g.29967836G>A, NW_011332701.1:g.1847272G>A, NT_187660.1:g.1959756G>A

Select item 148795781012.

rs1487957810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:29679585 (GRCh38)
15:29971789 (GRCh37)
Canonical SPDI:: NC_000015.10:29679584:G:A
Gene:: LOC100130111 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000015.10:g.29679585G>A, NC_000015.9:g.29971789G>A, NW_011332701.1:g.1851225G>A, NT_187660.1:g.1963709G>A

Select item 148743576013.

rs1487435760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:29674974 (GRCh38)
15:29967178 (GRCh37)
Canonical SPDI:: NC_000015.10:29674973:C:G,NC_000015.10:29674973:C:T
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000015.10:g.29674974C>G, NC_000015.10:g.29674974C>T, NC_000015.9:g.29967178C>G, NC_000015.9:g.29967178C>T, NW_011332701.1:g.1846614C>G, NW_011332701.1:g.1846614C>T, NT_187660.1:g.1959098C>G, NT_187660.1:g.1959098C>T, NR_135221.1:n.40C>G, NR_135221.1:n.40C>T

Select item 148705814414.

rs1487058144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:29674733 (GRCh38)
15:29966937 (GRCh37)
Canonical SPDI:: NC_000015.10:29674732:G:A
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.29674733G>A, NC_000015.9:g.29966937G>A, NW_011332701.1:g.1846373G>A, NT_187660.1:g.1958857G>A

Select item 148705241215.

rs1487052412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:29676299 (GRCh38)
15:29968503 (GRCh37)
Canonical SPDI:: NC_000015.10:29676298:T:C
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.29676299T>C, NC_000015.9:g.29968503T>C, NW_011332701.1:g.1847939T>C, NT_187660.1:g.1960423T>C

Select item 148604322616.

rs1486043226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:29674985 (GRCh38)
15:29967189 (GRCh37)
Canonical SPDI:: NC_000015.10:29674984:G:C,NC_000015.10:29674984:G:T
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.29674985G>C, NC_000015.10:g.29674985G>T, NC_000015.9:g.29967189G>C, NC_000015.9:g.29967189G>T, NW_011332701.1:g.1846625G>C, NW_011332701.1:g.1846625G>T, NT_187660.1:g.1959109G>C, NT_187660.1:g.1959109G>T, NR_135221.1:n.51G>C, NR_135221.1:n.51G>T

Select item 148561392217.

rs1485613922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:29675190 (GRCh38)
15:29967394 (GRCh37)
Canonical SPDI:: NC_000015.10:29675189:G:C
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.29675190G>C, NC_000015.9:g.29967394G>C, NW_011332701.1:g.1846830G>C, NT_187660.1:g.1959314G>C, NM_001387216.1:c.-161C>G, NM_001387215.1:c.-161C>G, NM_001387217.1:c.-161C>G, NR_135221.1:n.256G>C

Select item 148506034618.

rs1485060346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:29675447 (GRCh38)
15:29967651 (GRCh37)
Canonical SPDI:: NC_000015.10:29675446:G:A
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.29675447G>A, NC_000015.9:g.29967651G>A, NW_011332701.1:g.1847087G>A, NT_187660.1:g.1959571G>A, NR_135221.1:n.513G>A

Select item 148483816219.

rs1484838162 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCCCCCCCC,CCCCCCCCCC [Show Flanks]
Chromosome:: 15:29675535 (GRCh38)
15:29967739 (GRCh37)
Canonical SPDI:: NC_000015.10:29675534:CCCCCCC:CCCCCC,NC_000015.10:29675534:CCCCCCC:CCCCCCCC,NC_000015.10:29675534:CCCCCCC:CCCCCCCCCCCCCCC,NC_000015.10:29675534:CCCCCCC:CCCCCCCCCCCCCCCC
Gene:: FAM189A1 (Varview), LOC100130111 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
HGVS:: NC_000015.10:g.29675541del, NC_000015.10:g.29675541dup, NC_000015.10:g.29675541_29675542insCCCCCCCC, NC_000015.10:g.29675541_29675542insCCCCCCCCC, NC_000015.9:g.29967745del, NC_000015.9:g.29967745dup, NC_000015.9:g.29967745_29967746insCCCCCCCC, NC_000015.9:g.29967745_29967746insCCCCCCCCC, NW_011332701.1:g.1847181del, NW_011332701.1:g.1847181dup, NW_011332701.1:g.1847181_1847182insCCCCCCCC, NW_011332701.1:g.1847181_1847182insCCCCCCCCC, NT_187660.1:g.1959665del, NT_187660.1:g.1959665dup, NT_187660.1:g.1959665_1959666insCCCCCCCC, NT_187660.1:g.1959665_1959666insCCCCCCCCC

Select item 148410214520.

rs1484102145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:29679360 (GRCh38)
15:29971564 (GRCh37)
Canonical SPDI:: NC_000015.10:29679359:G:A
Gene:: LOC100130111 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.29679360G>A, NC_000015.9:g.29971564G>A, NW_011332701.1:g.1851000G>A, NT_187660.1:g.1963484G>A

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