SNP Links for Gene (Select 10412) - SNP

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Select item 14915843701.

rs1491584370 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:74764771 (GRCh38)
5:74060597 (GRCh37)
Canonical SPDI:: NC_000005.10:74764771:TTT:TTTT
Gene:: GFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.74764774dup, NC_000005.9:g.74060599dup, NG_011531.1:g.7446dup

Select item 14912670022.

rs1491267002 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:74771853 (GRCh38)
5:74067678 (GRCh37)
Canonical SPDI:: NC_000005.10:74771852:CA:
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00143/17 (ALFA)
HGVS:: NC_000005.10:g.74771853_74771854del, NC_000005.9:g.74067678_74067679del, NG_011531.1:g.364_365del

Select item 14912549023.

rs1491254902 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCT [Show Flanks]
Chromosome:: 5:74775207 (GRCh38)
5:74071033 (GRCh37)
Canonical SPDI:: NC_000005.10:74775207:TCTGTCT:TCTGTCTGTCT
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTGTCTGTCT=0./0 (ALFA)
TCTG=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.74775211_74775214dup, NC_000005.9:g.74071036_74071039dup

Select item 14912494094.

rs1491249409 has merged into rs11291606 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:74771855 (GRCh38)
5:74067680 (GRCh37)
Canonical SPDI:: NC_000005.10:74771853:AAAAAAAAAAAAAAAA:A,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74771853:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.075/3 (GENOME_DK)
-=0.104048/401 (ALSPAC)
HGVS:: NC_000005.10:g.74771855_74771869del, NC_000005.10:g.74771860_74771869del, NC_000005.10:g.74771861_74771869del, NC_000005.10:g.74771862_74771869del, NC_000005.10:g.74771863_74771869del, NC_000005.10:g.74771864_74771869del, NC_000005.10:g.74771866_74771869del, NC_000005.10:g.74771867_74771869del, NC_000005.10:g.74771868_74771869del, NC_000005.10:g.74771869del, NC_000005.10:g.74771869dup, NC_000005.10:g.74771867_74771869dup, NC_000005.10:g.74771862_74771869dup, NC_000005.10:g.74771861_74771869dup, NC_000005.9:g.74067680_74067694del, NC_000005.9:g.74067685_74067694del, NC_000005.9:g.74067686_74067694del, NC_000005.9:g.74067687_74067694del, NC_000005.9:g.74067688_74067694del, NC_000005.9:g.74067689_74067694del, NC_000005.9:g.74067691_74067694del, NC_000005.9:g.74067692_74067694del, NC_000005.9:g.74067693_74067694del, NC_000005.9:g.74067694del, NC_000005.9:g.74067694dup, NC_000005.9:g.74067692_74067694dup, NC_000005.9:g.74067687_74067694dup, NC_000005.9:g.74067686_74067694dup, NG_011531.1:g.350_364del, NG_011531.1:g.355_364del, NG_011531.1:g.356_364del, NG_011531.1:g.357_364del, NG_011531.1:g.358_364del, NG_011531.1:g.359_364del, NG_011531.1:g.361_364del, NG_011531.1:g.362_364del, NG_011531.1:g.363_364del, NG_011531.1:g.364del, NG_011531.1:g.364dup, NG_011531.1:g.362_364dup, NG_011531.1:g.357_364dup, NG_011531.1:g.356_364dup

Select item 14911460745.

rs1491146074 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:74764771 (GRCh38)
5:74060596 (GRCh37)
Canonical SPDI:: NC_000005.10:74764770:CT:
Gene:: GFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.74764771_74764772del, NC_000005.9:g.74060596_74060597del, NG_011531.1:g.7446_7447del

Select item 14908986376.

rs1490898637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:74774145 (GRCh38)
5:74069970 (GRCh37)
Canonical SPDI:: NC_000005.10:74774144:C:T
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.74774145C>T, NC_000005.9:g.74069970C>T

Select item 14908706367.

rs1490870636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:74767090 (GRCh38)
5:74062915 (GRCh37)
Canonical SPDI:: NC_000005.10:74767089:C:T
Gene:: NSA2 (Varview), GFM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.74767090C>T, NC_000005.9:g.74062915C>T, NG_011531.1:g.5128G>A, NM_032380.5:c.-177G>A, NM_032380.4:c.-177G>A, NM_170691.3:c.-177G>A, NM_170691.2:c.-177G>A, NM_170681.3:c.-177G>A, NM_170681.2:c.-177G>A, NM_001281302.2:c.-199G>A, NM_001281302.1:c.-199G>A, NR_104006.2:n.28G>A, NR_104006.1:n.282G>A, XM_011543691.4:c.-177G>A, XM_011543691.3:c.-177G>A, XM_011543691.2:c.-177G>A, XM_011543691.1:c.-177G>A, NM_014886.4:c.-271C>T, XM_017009986.2:c.-503G>A, XM_047417833.1:c.-615G>A, XM_047417834.1:c.-615G>A, XM_047417835.1:c.-503G>A, NR_073403.1:n.100C>T, NR_157205.1:n.100C>T, NR_157206.1:n.100C>T, NM_001271665.1:c.-271C>T, NM_001364506.1:c.-271C>T

Select item 14908354448.

rs1490835444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:74767989 (GRCh38)
5:74063814 (GRCh37)
Canonical SPDI:: NC_000005.10:74767988:G:C
Gene:: NSA2 (Varview), GFM2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.74767989G>C, NC_000005.9:g.74063814G>C, NG_011531.1:g.4229C>G

Select item 14908235659.

rs1490823565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:74766847 (GRCh38)
5:74062672 (GRCh37)
Canonical SPDI:: NC_000005.10:74766846:T:C,NC_000005.10:74766846:T:G
Gene:: NSA2 (Varview), GFM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.74766847T>C, NC_000005.10:g.74766847T>G, NC_000005.9:g.74062672T>C, NC_000005.9:g.74062672T>G, NG_011531.1:g.5371A>G, NG_011531.1:g.5371A>C, XM_017009986.2:c.-260A>G, XM_017009986.2:c.-260A>C, XM_017009986.1:c.-260A>G, XM_017009986.1:c.-260A>C, XM_047417833.1:c.-372A>G, XM_047417833.1:c.-372A>C, XM_047417834.1:c.-372A>G, XM_047417834.1:c.-372A>C, XM_047417835.1:c.-260A>G, XM_047417835.1:c.-260A>C

Select item 149066112010.

rs1490661120 [Homo sapiens]

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

Select item 149057553711.

rs1490575537 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:74774410 (GRCh38)
5:74070235 (GRCh37)
Canonical SPDI:: NC_000005.10:74774409:T:
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.74774410del, NC_000005.9:g.74070235del

Select item 149055994012.

rs1490559940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:74775310 (GRCh38)
5:74071135 (GRCh37)
Canonical SPDI:: NC_000005.10:74775309:C:T
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000005.10:g.74775310C>T, NC_000005.9:g.74071135C>T

Select item 149025558013.

rs1490255580 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:74773508 (GRCh38)
5:74069333 (GRCh37)
Canonical SPDI:: NC_000005.10:74773506:GTG:G
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.74773508_74773509del, NC_000005.9:g.74069333_74069334del

Select item 149014917114.

rs1490149171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:74769332 (GRCh38)
5:74065157 (GRCh37)
Canonical SPDI:: NC_000005.10:74769331:A:G
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.74769332A>G, NC_000005.9:g.74065157A>G, NG_011531.1:g.2886T>C, NM_014886.6:c.310A>G, NM_014886.5:c.310A>G, NM_014886.4:c.310A>G, NR_073403.2:n.422A>G, NR_073403.1:n.680A>G, NR_157205.2:n.422A>G, NR_157205.1:n.680A>G, NM_001271665.2:c.310A>G, NM_001271665.1:c.310A>G, NM_001364506.2:c.310A>G, NM_001364506.1:c.310A>G, NP_055701.1:p.Asn104Asp, NP_001258594.1:p.Asn104Asp, NP_001351435.1:p.Asn104Asp

Select item 149006909715.

rs1490069097 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACC>- [Show Flanks]
Chromosome:: 5:74765806 (GRCh38)
5:74061631 (GRCh37)
Canonical SPDI:: NC_000005.10:74765803:CCGACC:CC
Gene:: NSA2 (Varview), GFM2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000005.10:g.74765806_74765809del, NC_000005.9:g.74061631_74061634del, NG_011531.1:g.6411_6414del

Select item 149005174816.

rs1490051748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:74766674 (GRCh38)
5:74062499 (GRCh37)
Canonical SPDI:: NC_000005.10:74766673:T:C
Gene:: NSA2 (Varview), GFM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.74766674T>C, NC_000005.9:g.74062499T>C, NG_011531.1:g.5544A>G, XM_017009986.2:c.-87A>G, XM_017009986.1:c.-87A>G, XM_047417833.1:c.-199A>G, XM_047417834.1:c.-199A>G, XM_047417835.1:c.-87A>G

Select item 148984364317.

rs1489843643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:74764813 (GRCh38)
5:74060638 (GRCh37)
Canonical SPDI:: NC_000005.10:74764812:T:A
Gene:: GFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.74764813T>A, NC_000005.9:g.74060638T>A, NG_011531.1:g.7405A>T

Select item 148981063318.

rs1489810633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:74773255 (GRCh38)
5:74069080 (GRCh37)
Canonical SPDI:: NC_000005.10:74773254:A:G
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.74773255A>G, NC_000005.9:g.74069080A>G

Select item 148940093819.

rs1489400938 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>-,AATAAT [Show Flanks]
Chromosome:: 5:74775232 (GRCh38)
5:74071057 (GRCh37)
Canonical SPDI:: NC_000005.10:74775221:TAATAATAATAAT:TAATAATAAT,NC_000005.10:74775221:TAATAATAATAAT:TAATAATAATAATAAT
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAATAAT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
TAA=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.74775223AAT[3], NC_000005.10:g.74775223AAT[5], NC_000005.9:g.74071048AAT[3], NC_000005.9:g.74071048AAT[5]

Select item 148900540020.

rs1489005400 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:74773481 (GRCh38)
5:74069307 (GRCh37)
Canonical SPDI:: NC_000005.10:74773481::T
Gene:: NSA2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.74773481_74773482insT, NC_000005.9:g.74069306_74069307insT

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