SNP Links for Gene (Select 389058) - SNP

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Select item 14912342061.

rs1491234206 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGT [Show Flanks]
Chromosome:: 2:170714945 (GRCh38)
2:171571456 (GRCh37)
Canonical SPDI:: NC_000002.12:170714945:TGTGT:TGTGTATGTGT
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGTGTATGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.170714946_170714950TG[2]TATGTGT[1], NC_000002.11:g.171571456_171571460TG[2]TATGTGT[1]

Select item 14911026692.

rs1491102669 has merged into rs58869872 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:170714957 (GRCh38)
2:171571467 (GRCh37)
Canonical SPDI:: NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:170714944:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.226/1132 (1000Genomes)
HGVS:: NC_000002.12:g.170714945GT[6], NC_000002.12:g.170714945GT[7], NC_000002.12:g.170714945GT[8], NC_000002.12:g.170714945GT[9], NC_000002.12:g.170714945GT[10], NC_000002.12:g.170714945GT[11], NC_000002.12:g.170714945GT[13], NC_000002.12:g.170714945GT[14], NC_000002.12:g.170714945GT[15], NC_000002.12:g.170714945GT[16], NC_000002.12:g.170714945GT[17], NC_000002.12:g.170714945GT[18], NC_000002.12:g.170714945GT[19], NC_000002.12:g.170714945GT[20], NC_000002.12:g.170714945GT[21], NC_000002.12:g.170714945GT[22], NC_000002.12:g.170714945GT[23], NC_000002.12:g.170714945GT[24], NC_000002.11:g.171571455GT[6], NC_000002.11:g.171571455GT[7], NC_000002.11:g.171571455GT[8], NC_000002.11:g.171571455GT[9], NC_000002.11:g.171571455GT[10], NC_000002.11:g.171571455GT[11], NC_000002.11:g.171571455GT[13], NC_000002.11:g.171571455GT[14], NC_000002.11:g.171571455GT[15], NC_000002.11:g.171571455GT[16], NC_000002.11:g.171571455GT[17], NC_000002.11:g.171571455GT[18], NC_000002.11:g.171571455GT[19], NC_000002.11:g.171571455GT[20], NC_000002.11:g.171571455GT[21], NC_000002.11:g.171571455GT[22], NC_000002.11:g.171571455GT[23], NC_000002.11:g.171571455GT[24]

Select item 14909064053.

rs1490906405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:170716189 (GRCh38)
2:171572699 (GRCh37)
Canonical SPDI:: NC_000002.12:170716188:G:A
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.170716189G>A, NC_000002.11:g.171572699G>A

Select item 14907548494.

rs1490754849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:170714318 (GRCh38)
2:171570828 (GRCh37)
Canonical SPDI:: NC_000002.12:170714317:G:A
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.170714318G>A, NC_000002.11:g.171570828G>A, NR_027433.1:n.250C>T, NM_001013712.1:c.126C>T

Select item 14907063525.

rs1490706352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:170713647 (GRCh38)
2:171570157 (GRCh37)
Canonical SPDI:: NC_000002.12:170713646:C:T
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.170713647C>T, NC_000002.11:g.171570157C>T, NR_027433.1:n.921G>A, NM_001013712.1:c.797G>A

Select item 14905903046.

rs1490590304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:170715537 (GRCh38)
2:171572047 (GRCh37)
Canonical SPDI:: NC_000002.12:170715536:A:C,NC_000002.12:170715536:A:G
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0.000032/5 (GnomAD_exomes)
HGVS:: NC_000002.12:g.170715537A>C, NC_000002.12:g.170715537A>G, NC_000002.11:g.171572047A>C, NC_000002.11:g.171572047A>G, XM_005246542.5:c.-349A>C, XM_005246542.5:c.-349A>G, XM_005246542.4:c.-349A>C, XM_005246542.4:c.-349A>G, XM_005246542.3:c.-349A>C, XM_005246542.3:c.-349A>G, XM_005246542.2:c.-349A>C, XM_005246542.2:c.-349A>G, NM_001003845.3:c.25A>C, NM_001003845.3:c.25A>G, NM_001003845.2:c.25A>C, NM_001003845.2:c.25A>G, NP_001003845.1:p.Asn9His, NP_001003845.1:p.Asn9Asp

Select item 14903849257.

rs1490384925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:170716267 (GRCh38)
2:171572777 (GRCh37)
Canonical SPDI:: NC_000002.12:170716266:C:T
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_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_000002.12:g.170716267C>T, NC_000002.11:g.171572777C>T, XM_005246542.5:c.192C>T, XM_005246542.4:c.192C>T, XM_005246542.3:c.192C>T, XM_005246542.2:c.192C>T, XM_005246542.1:c.192C>T, NM_001003845.3:c.60C>T, NM_001003845.2:c.60C>T, XM_047444264.1:c.-169C>T

Select item 14900845598.

rs1490084559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:170715300 (GRCh38)
2:171571810 (GRCh37)
Canonical SPDI:: NC_000002.12:170715299:T:A
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.170715300T>A, NC_000002.11:g.171571810T>A

Select item 14897169829.

rs1489716982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:170716906 (GRCh38)
2:171573416 (GRCh37)
Canonical SPDI:: NC_000002.12:170716905:C:G,NC_000002.12:170716905:C:T
Gene:: SP5 (Varview), ERICH2-DT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.170716906C>G, NC_000002.12:g.170716906C>T, NC_000002.11:g.171573416C>G, NC_000002.11:g.171573416C>T, XM_005246542.5:c.831C>G, XM_005246542.5:c.831C>T, XM_005246542.4:c.831C>G, XM_005246542.4:c.831C>T, XM_005246542.3:c.831C>G, XM_005246542.3:c.831C>T, XM_005246542.2:c.831C>G, XM_005246542.2:c.831C>T, XM_005246542.1:c.831C>G, XM_005246542.1:c.831C>T, NM_001003845.3:c.699C>G, NM_001003845.3:c.699C>T, NM_001003845.2:c.699C>G, NM_001003845.2:c.699C>T, XM_047444264.1:c.471C>G, XM_047444264.1:c.471C>T

Select item 148879141410.

rs1488791414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:170717844 (GRCh38)
2:171574354 (GRCh37)
Canonical SPDI:: NC_000002.12:170717843:A:G
Gene:: SP5 (Varview), ERICH2-DT (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.170717844A>G, NC_000002.11:g.171574354A>G, XM_005246542.5:c.*440A>G, XM_005246542.4:c.*440A>G, XM_005246542.3:c.*440A>G, XM_005246542.2:c.*440A>G, XM_005246542.1:c.*440A>G, NM_001003845.3:c.*440A>G, NM_001003845.2:c.*440A>G, XM_047444264.1:c.*440A>G

Select item 148861286711.

rs1488612867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:170714871 (GRCh38)
2:171571381 (GRCh37)
Canonical SPDI:: NC_000002.12:170714870:G:A
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.170714871G>A, NC_000002.11:g.171571381G>A

Select item 148843768112.

rs1488437681 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:170713722 (GRCh38)
2:171570232 (GRCh37)
Canonical SPDI:: NC_000002.12:170713721:CC:C
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.170713723del, NC_000002.11:g.171570233del, NR_027433.1:n.846del, NM_001013712.1:c.722del

Select item 148768359913.

rs1487683599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:170715361 (GRCh38)
2:171571871 (GRCh37)
Canonical SPDI:: NC_000002.12:170715360:G:A,NC_000002.12:170715360:G:C,NC_000002.12:170715360:G:T
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.170715361G>A, NC_000002.12:g.170715361G>C, NC_000002.12:g.170715361G>T, NC_000002.11:g.171571871G>A, NC_000002.11:g.171571871G>C, NC_000002.11:g.171571871G>T, XM_005246542.5:c.-525G>A, XM_005246542.5:c.-525G>C, XM_005246542.5:c.-525G>T, XM_005246542.4:c.-525G>A, XM_005246542.4:c.-525G>C, XM_005246542.4:c.-525G>T, XM_005246542.3:c.-525G>A, XM_005246542.3:c.-525G>C, XM_005246542.3:c.-525G>T, NM_001003845.3:c.-152G>A, NM_001003845.3:c.-152G>C, NM_001003845.3:c.-152G>T, NM_001003845.2:c.-152G>A, NM_001003845.2:c.-152G>C, NM_001003845.2:c.-152G>T

Select item 148758819114.

rs1487588191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:170717249 (GRCh38)
2:171573759 (GRCh37)
Canonical SPDI:: NC_000002.12:170717248:C:A
Gene:: SP5 (Varview), ERICH2-DT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.170717249C>A, NC_000002.11:g.171573759C>A, XM_005246542.5:c.1174C>A, XM_005246542.4:c.1174C>A, XM_005246542.3:c.1174C>A, XM_005246542.2:c.1174C>A, XM_005246542.1:c.1174C>A, NM_001003845.3:c.1042C>A, NM_001003845.2:c.1042C>A, XM_047444264.1:c.814C>A

Select item 148711074515.

rs1487110745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:170713539 (GRCh38)
2:171570049 (GRCh37)
Canonical SPDI:: NC_000002.12:170713538:G:C
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.170713539G>C, NC_000002.11:g.171570049G>C, NR_027433.1:n.1029C>G, NM_001013712.1:c.*92C>G

Select item 148677135016.

rs1486771350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:170713261 (GRCh38)
2:171569771 (GRCh37)
Canonical SPDI:: NC_000002.12:170713260:G:T
Gene:: LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.170713261G>T, NC_000002.11:g.171569771G>T, NR_027433.1:n.1307C>A, NM_001013712.1:c.*370C>A

Select item 148641429717.

rs1486414297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:170714327 (GRCh38)
2:171570837 (GRCh37)
Canonical SPDI:: NC_000002.12:170714326:G:C
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.170714327G>C, NC_000002.11:g.171570837G>C, NR_027433.1:n.241C>G, NM_001013712.1:c.117C>G

Select item 148557623218.

rs1485576232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:170717399 (GRCh38)
2:171573909 (GRCh37)
Canonical SPDI:: NC_000002.12:170717398:C:T
Gene:: SP5 (Varview), ERICH2-DT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.170717399C>T, NC_000002.11:g.171573909C>T, XM_005246542.5:c.1324C>T, XM_005246542.4:c.1324C>T, XM_005246542.3:c.1324C>T, XM_005246542.2:c.1324C>T, XM_005246542.1:c.1324C>T, NM_001003845.3:c.1192C>T, NM_001003845.2:c.1192C>T, XM_047444264.1:c.964C>T

Select item 148542450619.

rs1485424506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:170714684 (GRCh38)
2:171571194 (GRCh37)
Canonical SPDI:: NC_000002.12:170714683:C:T
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.170714684C>T, NC_000002.11:g.171571194C>T

Select item 148537388220.

rs1485373882 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGAGGCC [Show Flanks]
Chromosome:: 2:170713857 (GRCh38)
2:171570368 (GRCh37)
Canonical SPDI:: NC_000002.12:170713857:GGCCGCGAGGCC:GGCCGCGAGGCCGCGAGGCC
Gene:: SP5 (Varview), LINC01124 (Varview), ERICH2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCCGCGAGGCCGCGAGGCC=0./0 (ALFA)
GGCCGCGA=0.000007/1 (GnomAD)
GGCCGCGA=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.170713862_170713869dup, NC_000002.11:g.171570372_171570379dup, NR_027433.1:n.703_710dup, NM_001013712.1:c.579_586dup

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