SNP Links for Gene (Select 10455) - SNP

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Select item 14908797131.

rs1490879713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:4117058 (GRCh38)
6:4117292 (GRCh37)
Canonical SPDI:: NC_000006.12:4117057:C:A,NC_000006.12:4117057:C:T
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.4117058C>A, NC_000006.12:g.4117058C>T, NC_000006.11:g.4117292C>A, NC_000006.11:g.4117292C>T

Select item 14904420152.

rs1490442015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:4134089 (GRCh38)
6:4134323 (GRCh37)
Canonical SPDI:: NC_000006.12:4134088:T:C
Gene:: ECI2 (Varview), ECI2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.4134089T>C, NC_000006.11:g.4134323T>C

Select item 14904065113.

rs1490406511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:4133095 (GRCh38)
6:4133329 (GRCh37)
Canonical SPDI:: NC_000006.12:4133094:A:T
Gene:: ECI2 (Varview)
Functional Consequence:: intron_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_000006.12:g.4133095A>T, NC_000006.11:g.4133329A>T

Select item 14903568904.

rs1490356890 has merged into rs1392932476 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTTCCT>-,CCCTTCCTCCCTTCCT [Show Flanks]
Chromosome:: 6:4129112 (GRCh38)
6:4129346 (GRCh37)
Canonical SPDI:: NC_000006.12:4129100:CCTCCCTTCCTCCCTTCCT:CCTCCCTTCCT,NC_000006.12:4129100:CCTCCCTTCCTCCCTTCCT:CCTCCCTTCCTCCCTTCCTCCCTTCCT
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCCTTCCT=0.00055/9 (ALFA)
HGVS:: NC_000006.12:g.4129104CCCTTCCT[1], NC_000006.12:g.4129104CCCTTCCT[3], NC_000006.11:g.4129338CCCTTCCT[1], NC_000006.11:g.4129338CCCTTCCT[3]

Select item 14903356125.

rs1490335612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:4115417 (GRCh38)
6:4115651 (GRCh37)
Canonical SPDI:: NC_000006.12:4115416:C:A
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.4115417C>A, NC_000006.11:g.4115651C>A, NR_104463.3:n.1060C>A, NR_104463.2:n.1060C>A, NR_104463.1:n.1063C>A

Select item 14902183696.

rs1490218369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:4130242 (GRCh38)
6:4130476 (GRCh37)
Canonical SPDI:: NC_000006.12:4130241:C:A
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.4130242C>A, NC_000006.11:g.4130476C>A, NR_104463.3:n.2665C>A, NR_104463.2:n.2665C>A, NR_104463.1:n.2668C>A, NR_104464.3:n.2011C>A, NR_104464.2:n.2011C>A, NR_104464.1:n.2014C>A, NM_001085401.3:c.*60C>A, NM_001085401.2:c.*60C>A, NR_028588.2:n.514G>T, NR_028588.1:n.536G>T, NM_206834.1:c.*1237C>A, NR_172627.1:n.1248C>A, NR_172628.1:n.870C>A

Select item 14901133127.

rs1490113312 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:4133240 (GRCh38)
6:4133474 (GRCh37)
Canonical SPDI:: NC_000006.12:4133239:T:C
Gene:: ECI2 (Varview)
Functional Consequence:: 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_000006.12:g.4133240T>C, NC_000006.11:g.4133474T>C

Select item 14900882868.

rs1490088286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:4131978 (GRCh38)
6:4132212 (GRCh37)
Canonical SPDI:: NC_000006.12:4131977:G:A
Gene:: ECI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.4131978G>A, NC_000006.11:g.4132212G>A

Select item 14900744039.

rs1490074403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:4127235 (GRCh38)
6:4127469 (GRCh37)
Canonical SPDI:: NC_000006.12:4127234:G:A
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.4127235G>A, NC_000006.11:g.4127469G>A

Select item 149006311710.

rs1490063117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:4116518 (GRCh38)
6:4116752 (GRCh37)
Canonical SPDI:: NC_000006.12:4116517:G:C
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: 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_000006.12:g.4116518G>C, NC_000006.11:g.4116752G>C

Select item 149002083711.

rs1490020837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:4124902 (GRCh38)
6:4125136 (GRCh37)
Canonical SPDI:: NC_000006.12:4124901:T:A
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.4124902T>A, NC_000006.11:g.4125136T>A

Select item 148996455712.

rs1489964557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:4123835 (GRCh38)
6:4124069 (GRCh37)
Canonical SPDI:: NC_000006.12:4123834:G:A
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.4123835G>A, NC_000006.11:g.4124069G>A

Select item 148984672713.

rs1489846727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:4130740 (GRCh38)
6:4130974 (GRCh37)
Canonical SPDI:: NC_000006.12:4130739:T:G
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.4130740T>G, NC_000006.11:g.4130974T>G, NR_104463.3:n.3040T>G, NR_104463.2:n.3040T>G, NR_104463.1:n.3043T>G, NR_104464.3:n.2386T>G, NR_104464.2:n.2386T>G, NR_104464.1:n.2389T>G, NM_001085401.3:c.*435T>G, NM_001085401.2:c.*435T>G, NM_206834.1:c.*1612T>G, NR_172627.1:n.1623T>G, NR_172628.1:n.1245T>G

Select item 148983373014.

rs1489833730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:4121967 (GRCh38)
6:4122201 (GRCh37)
Canonical SPDI:: NC_000006.12:4121966:T:G
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.4121967T>G, NC_000006.11:g.4122201T>G, NR_104463.3:n.1325T>G, NR_104463.2:n.1325T>G, NR_104463.1:n.1328T>G, NR_104464.3:n.690T>G, NR_104464.2:n.690T>G, NR_104464.1:n.693T>G, NM_001085401.3:c.303T>G, NM_001085401.2:c.303T>G, NM_206834.1:c.312T>G, NR_172627.1:n.1068T>G, NR_172628.1:n.690T>G

Select item 148973507615.

rs1489735076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:4134557 (GRCh38)
6:4134791 (GRCh37)
Canonical SPDI:: NC_000006.12:4134556:G:A
Gene:: ECI2 (Varview), ECI2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.4134557G>A, NC_000006.11:g.4134791G>A

Select item 148954530316.

rs1489545303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:4131405 (GRCh38)
6:4131639 (GRCh37)
Canonical SPDI:: NC_000006.12:4131404:C:A,NC_000006.12:4131404:C:T
Gene:: ECI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.00011/3 (TOMMO)
HGVS:: NC_000006.12:g.4131405C>A, NC_000006.12:g.4131405C>T, NC_000006.11:g.4131639C>A, NC_000006.11:g.4131639C>T

Select item 148950854217.

rs1489508542 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTT [Show Flanks]
Chromosome:: 6:4118057 (GRCh38)
6:4118292 (GRCh37)
Canonical SPDI:: NC_000006.12:4118057:T:TTTTTTTTTT
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTT=0.0007/3 (ALFA)
TTTTTTTTT=0.0007/3 (Estonian)
HGVS:: NC_000006.12:g.4118058_4118059insTTTTTTTTT, NC_000006.11:g.4118292_4118293insTTTTTTTTT

Select item 148922603518.

rs1489226035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:4135736 (GRCh38)
6:4135970 (GRCh37)
Canonical SPDI:: NC_000006.12:4135735:T:C,NC_000006.12:4135735:T:G
Gene:: ECI2 (Varview), ECI2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.08089/937 (ALFA)
G=0.00373/17 (GnomAD)
G=0.00646/100 (TOMMO)
G=0.01827/117 (1000Genomes)
G=0.10767/250 (KOREAN)
HGVS:: NC_000006.12:g.4135736T>C, NC_000006.12:g.4135736T>G, NC_000006.11:g.4135970T>C, NC_000006.11:g.4135970T>G

Select item 148915543019.

rs1489155430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:4135027 (GRCh38)
6:4135261 (GRCh37)
Canonical SPDI:: NC_000006.12:4135026:C:G,NC_000006.12:4135026:C:T
Gene:: ECI2 (Varview), ECI2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.4135027C>G, NC_000006.12:g.4135027C>T, NC_000006.11:g.4135261C>G, NC_000006.11:g.4135261C>T

Select item 148906790120.

rs1489067901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:4119772 (GRCh38)
6:4120006 (GRCh37)
Canonical SPDI:: NC_000006.12:4119771:C:T
Gene:: ECI2 (Varview), C6orf201 (Varview)
Functional Consequence:: intron_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_000006.12:g.4119772C>T, NC_000006.11:g.4120006C>T

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