SNP Links for Gene (Select 728833) - SNP

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Select item 14914264061.

rs1491426406 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:145107133 (GRCh38)
1:143902009 (GRCh37)
Canonical SPDI:: NC_000001.11:145107132:CA:
Gene:: FAM72D (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0027/32 (ALFA)
HGVS:: NC_000001.11:g.145107133_145107134del, NW_003871055.3:g.1922546_1922547del, NC_000001.10:g.143902009_143902010del

Select item 14911192832.

rs1491119283 has merged into rs71270756 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:145107143 (GRCh38)
1:143902000 (GRCh37)
Canonical SPDI:: NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:145107133:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM72D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
T=0.2308/6 (GENOME_DK)
HGVS:: NC_000001.11:g.145107143_145107153del, NC_000001.11:g.145107145_145107153del, NC_000001.11:g.145107146_145107153del, NC_000001.11:g.145107147_145107153del, NC_000001.11:g.145107148_145107153del, NC_000001.11:g.145107149_145107153del, NC_000001.11:g.145107150_145107153del, NC_000001.11:g.145107151_145107153del, NC_000001.11:g.145107152_145107153del, NC_000001.11:g.145107153del, NC_000001.11:g.145107153dup, NC_000001.11:g.145107152_145107153dup, NC_000001.11:g.145107150_145107153dup, NW_003871055.3:g.1922556_1922566del, NW_003871055.3:g.1922558_1922566del, NW_003871055.3:g.1922559_1922566del, NW_003871055.3:g.1922560_1922566del, NW_003871055.3:g.1922561_1922566del, NW_003871055.3:g.1922562_1922566del, NW_003871055.3:g.1922563_1922566del, NW_003871055.3:g.1922564_1922566del, NW_003871055.3:g.1922565_1922566del, NW_003871055.3:g.1922566del, NW_003871055.3:g.1922566dup, NW_003871055.3:g.1922565_1922566dup, NW_003871055.3:g.1922563_1922566dup, NC_000001.10:g.143902009dup, NC_000001.10:g.143902000_143902009del, NC_000001.10:g.143902002_143902009del, NC_000001.10:g.143902003_143902009del, NC_000001.10:g.143902004_143902009del, NC_000001.10:g.143902005_143902009del, NC_000001.10:g.143902006_143902009del, NC_000001.10:g.143902007_143902009del, NC_000001.10:g.143902008_143902009del, NC_000001.10:g.143902009del, NC_000001.10:g.143902008_143902009dup, NC_000001.10:g.143902007_143902009dup, NC_000001.10:g.143902005_143902009dup

Select item 14910032223.

rs1491003222 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:145091911 (GRCh38)
1:143917230 (GRCh37)
Canonical SPDI:: NC_000001.11:145091910:TTT:TT
Gene:: SRGAP2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000169/2 (ALFA)
-=0.000432/54 (GnomAD)
-=0.000729/193 (TOPMED)
-=0.000781/5 (1000Genomes)
HGVS:: NC_000001.11:g.145091913del, NW_003871055.3:g.1907326del, NC_000001.10:g.143917232del

Select item 14908248584.

rs1490824858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:145104058 (GRCh38)
1:143905085 (GRCh37)
Canonical SPDI:: NC_000001.11:145104057:G:A,NC_000001.11:145104057:G:T
Gene:: FAM72D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.145104058G>A, NC_000001.11:g.145104058G>T, NW_003871055.3:g.1919471G>A, NW_003871055.3:g.1919471G>T, NC_000001.10:g.143905085C>T, NC_000001.10:g.143905085C>A

Select item 14907995905.

rs1490799590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:145102712 (GRCh38)
1:143906431 (GRCh37)
Canonical SPDI:: NC_000001.11:145102711:A:T
Gene:: FAM72D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.145102712A>T, NW_003871055.3:g.1918125A>T, NC_000001.10:g.143906431T>A

Select item 14905398306.

rs1490539830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145092609 (GRCh38)
1:143916534 (GRCh37)
Canonical SPDI:: NC_000001.11:145092608:C:T
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.145092609C>T, NW_003871055.3:g.1908022C>T, NC_000001.10:g.143916534G>A

Select item 14902607857.

rs1490260785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:145095295 (GRCh38)
1:143913848 (GRCh37)
Canonical SPDI:: NC_000001.11:145095294:C:A
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.145095295C>A, NW_003871055.3:g.1910708C>A, NC_000001.10:g.143913848G>T, NM_001271870.5:c.-615G>T, NM_001271870.4:c.-615G>T, NM_001271870.3:c.-615G>T, XM_005277421.5:c.-718G>T, XM_005277421.4:c.-718G>T, XM_017002087.3:c.-615G>T, XM_017002087.2:c.-615G>T, NM_001368324.2:c.-1135G>T, NM_001368324.1:c.-1135G>T, NM_001330684.2:c.-1135G>T, NM_001366280.2:c.-615G>T, NM_001385226.1:c.-615G>T, NM_001385227.1:c.-615G>T, NM_001385228.1:c.-615G>T, XM_047429806.1:c.-1553C>A

Select item 14902102278.

rs1490210227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145094027 (GRCh38)
1:143915116 (GRCh37)
Canonical SPDI:: NC_000001.11:145094026:T:C
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/4 (GnomAD)
HGVS:: NC_000001.11:g.145094027T>C, NW_003871055.3:g.1909440T>C, NC_000001.10:g.143915116A>G

Select item 14900058529.

rs1490005852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:145104712 (GRCh38)
1:143904431 (GRCh37)
Canonical SPDI:: NC_000001.11:145104711:A:C
Gene:: FAM72D (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00042/5 (ALFA)
C=0.00019/2 (GnomAD)
HGVS:: NC_000001.11:g.145104712A>C, NW_003871055.3:g.1920125A>C, NC_000001.10:g.143904431T>G, XM_011509963.4:c.*92A>C, XM_011509963.3:c.*92A>C, XM_011509963.2:c.*92A>C, XM_011509963.1:c.*92A>C

Select item 148975447710.

rs1489754477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145094760 (GRCh38)
1:143914383 (GRCh37)
Canonical SPDI:: NC_000001.11:145094759:C:T
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.00008/4 (GnomAD)
G=0.25/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.145094760C>T, NW_003871055.3:g.1910173C>T, NC_000001.10:g.143914383G>A, NM_001345942.2:c.-118C>T, NM_001345942.1:c.-118C>T

Select item 148964626511.

rs1489646265 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145093682 (GRCh38)
1:143915461 (GRCh37)
Canonical SPDI:: NC_000001.11:145093681:T:C
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145093682T>C, NW_003871055.3:g.1909095T>C, NC_000001.10:g.143915461A>G

Select item 148948080312.

rs1489480803 has merged into rs200256929 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 1:145105658 (GRCh38)
1:143903488 (GRCh37)
Canonical SPDI:: NC_000001.11:145105651:AAAAAAAAAA:AAAAAA,NC_000001.11:145105651:AAAAAAAAAA:AAAAAAA,NC_000001.11:145105651:AAAAAAAAAA:AAAAAAAA,NC_000001.11:145105651:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:145105651:AAAAAAAAAA:AAAAAAAAAAA
Gene:: FAM72D (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000259/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.000298/79 (TOPMED)
T=0.000657/11 (TOMMO)
-=0.003195/16 (1000Genomes)
HGVS:: NC_000001.11:g.145105658_145105661del, NC_000001.11:g.145105659_145105661del, NC_000001.11:g.145105660_145105661del, NC_000001.11:g.145105661del, NC_000001.11:g.145105661dup, NW_003871055.3:g.1921071_1921074del, NW_003871055.3:g.1921072_1921074del, NW_003871055.3:g.1921073_1921074del, NW_003871055.3:g.1921074del, NW_003871055.3:g.1921074dup, NC_000001.10:g.143903488_143903491del, NC_000001.10:g.143903489_143903491del, NC_000001.10:g.143903490_143903491del, NC_000001.10:g.143903491del, NC_000001.10:g.143903491dup, XM_011509963.4:c.*1038_*1041del, XM_011509963.4:c.*1039_*1041del, XM_011509963.4:c.*1040_*1041del, XM_011509963.4:c.*1041del, XM_011509963.4:c.*1041dup

Select item 148938456613.

rs1489384566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:145112504 (GRCh38)
1:143896640 (GRCh37)
Canonical SPDI:: NC_000001.11:145112503:G:C
Gene:: FAM72D (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.145112504G>C, NW_003871055.3:g.1927917G>C, NC_000001.10:g.143896640C>G, XM_011509962.4:c.*907G>C, XM_011509962.3:c.*907G>C, XM_011509962.2:c.*907G>C, XM_011509962.1:c.*907G>C, NM_207418.3:c.*907G>C, NM_207418.2:c.*907G>C, XM_024449521.2:c.*947G>C, XM_024449521.1:c.*947G>C, XM_024449520.2:c.*907G>C, XM_024449520.1:c.*907G>C, NR_144320.2:n.1531G>C, NR_144320.1:n.1531G>C, NM_001345942.2:c.*907G>C, NM_001345942.1:c.*907G>C, XM_047429806.1:c.*907G>C, XM_047429809.1:c.*907G>C, XM_047429821.1:c.*907G>C

Select item 148927695614.

rs1489276956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:145101474 (GRCh38)
1:143907669 (GRCh37)
Canonical SPDI:: NC_000001.11:145101473:G:T
Gene:: FAM72D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.00031/2 (1000Genomes)
HGVS:: NC_000001.11:g.145101474G>T, NW_003871055.3:g.1916887G>T, NC_000001.10:g.143907669C>A

Select item 148922459515.

rs1489224595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145100516 (GRCh38)
1:143908627 (GRCh37)
Canonical SPDI:: NC_000001.11:145100515:G:A
Gene:: FAM72D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.145100516G>A, NW_003871055.3:g.1915929G>A, NC_000001.10:g.143908627C>T

Select item 148901540516.

rs1489015405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145096102 (GRCh38)
1:143913041 (GRCh37)
Canonical SPDI:: NC_000001.11:145096101:A:G
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.145096102A>G, NW_003871055.3:g.1911515A>G, NC_000001.10:g.143913041T>C, XM_011509963.4:c.-746A>G, XM_011509963.3:c.-746A>G, XM_011509963.2:c.-746A>G, XM_011509963.1:c.-746A>G, NM_207418.3:c.-746A>G, NM_207418.2:c.-746A>G, XM_024449521.2:c.-746A>G, XM_024449521.1:c.-746A>G, XM_024449520.2:c.-323A>G, XM_024449520.1:c.-323A>G, XM_047429806.1:c.-746A>G, XM_047429809.1:c.-746A>G, XM_047429821.1:c.-229A>G

Select item 148896472117.

rs1488964721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145094048 (GRCh38)
1:143915095 (GRCh37)
Canonical SPDI:: NC_000001.11:145094047:G:A
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.145094048G>A, NW_003871055.3:g.1909461G>A, NC_000001.10:g.143915095C>T

Select item 148886550018.

rs1488865500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145112413 (GRCh38)
1:143896731 (GRCh37)
Canonical SPDI:: NC_000001.11:145112412:T:C
Gene:: FAM72D (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.145112413T>C, NW_003871055.3:g.1927826T>C, NC_000001.10:g.143896731A>G, XM_011509962.4:c.*816T>C, XM_011509962.3:c.*816T>C, XM_011509962.2:c.*816T>C, XM_011509962.1:c.*816T>C, NM_207418.3:c.*816T>C, NM_207418.2:c.*816T>C, XM_024449521.2:c.*856T>C, XM_024449521.1:c.*856T>C, XM_024449520.2:c.*816T>C, XM_024449520.1:c.*816T>C, NR_144320.2:n.1440T>C, NR_144320.1:n.1440T>C, NM_001345942.2:c.*816T>C, NM_001345942.1:c.*816T>C, XM_047429806.1:c.*816T>C, XM_047429809.1:c.*816T>C, XM_047429821.1:c.*816T>C

Select item 148880454419.

rs1488804544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:145101076 (GRCh38)
1:143908067 (GRCh37)
Canonical SPDI:: NC_000001.11:145101075:G:A,NC_000001.11:145101075:G:T
Gene:: FAM72D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.145101076G>A, NC_000001.11:g.145101076G>T, NW_003871055.3:g.1916489G>A, NW_003871055.3:g.1916489G>T, NC_000001.10:g.143908067C>T, NC_000001.10:g.143908067C>A

Select item 148880085020.

rs1488800850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145108851 (GRCh38)
1:143900293 (GRCh37)
Canonical SPDI:: NC_000001.11:145108850:C:T
Gene:: FAM72D (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.145108851C>T, NW_003871055.3:g.1924264C>T, NC_000001.10:g.143900293G>A

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