SNP Links for Gene (Select 6004) - SNP

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Select item 14915275141.

rs1491527514 has merged into rs1553211585 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCC,ACGC [Show Flanks]
Chromosome:: 1:182605175 (GRCh38)
1:182574311 (GRCh37)
Canonical SPDI:: NC_000001.11:182605175:C:CACCC,NC_000001.11:182605175:C:CACGC
Gene:: RGS16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACGC=0./0 (ALFA)
CACG=0.000015/2 (GnomAD)
CACC=0.174883/674 (ALSPAC)
CACC=0.178533/662 (TWINSUK)
HGVS:: NC_000001.11:g.182605176_182605177insACCC, NC_000001.11:g.182605176_182605177insACGC, NC_000001.10:g.182574311_182574312insACCC, NC_000001.10:g.182574311_182574312insACGC

Select item 14911654872.

rs1491165487 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:182605176 (GRCh38)
1:182574311 (GRCh37)
Canonical SPDI:: NC_000001.11:182605175:CC:
Gene:: RGS16 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.0153/59 (ALSPAC)
-=0.0531/197 (TWINSUK)
HGVS:: NC_000001.11:g.182605176_182605177del, NC_000001.10:g.182574311_182574312del

Select item 14911261943.

rs1491126194 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:182605145 (GRCh38)
1:182574280 (GRCh37)
Canonical SPDI:: NC_000001.11:182605144:GC:
Gene:: RGS16 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.0171/66 (ALSPAC)
-=0.0307/114 (TWINSUK)
HGVS:: NC_000001.11:g.182605145_182605146del, NC_000001.10:g.182574280_182574281del

Select item 14909205514.

rs1490920551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182605430 (GRCh38)
1:182574565 (GRCh37)
Canonical SPDI:: NC_000001.11:182605429:T:C
Gene:: RGS16 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.182605430T>C, NC_000001.10:g.182574565T>C

Select item 14905261835.

rs1490526183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182600086 (GRCh38)
1:182569221 (GRCh37)
Canonical SPDI:: NC_000001.11:182600085:T:C
Gene:: RGS16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.182600086T>C, NC_000001.10:g.182569221T>C, NM_002928.4:c.*206A>G, NM_002928.3:c.*206A>G, XM_024448796.1:c.*206A>G

Select item 14904301396.

rs1490430139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182605123 (GRCh38)
1:182574258 (GRCh37)
Canonical SPDI:: NC_000001.11:182605122:A:G
Gene:: RGS16 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.182605123A>G, NC_000001.10:g.182574258A>G

Select item 14894700707.

rs1489470070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:182603446 (GRCh38)
1:182572581 (GRCh37)
Canonical SPDI:: NC_000001.11:182603445:C:A
Gene:: RGS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.182603446C>A, NC_000001.10:g.182572581C>A

Select item 14892647598.

rs1489264759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182600084 (GRCh38)
1:182569219 (GRCh37)
Canonical SPDI:: NC_000001.11:182600083:G:A
Gene:: RGS16 (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.182600084G>A, NC_000001.10:g.182569219G>A, NM_002928.4:c.*208C>T, NM_002928.3:c.*208C>T, XM_024448796.1:c.*208C>T

Select item 14866042559.

rs1486604255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182598734 (GRCh38)
1:182567869 (GRCh37)
Canonical SPDI:: NC_000001.11:182598733:A:G
Gene:: RGS16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.182598734A>G, NC_000001.10:g.182567869A>G, NM_002928.4:c.*1558T>C, NM_002928.3:c.*1558T>C, XM_024448796.1:c.*1558T>C

Select item 148617155810.

rs1486171558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:182602419 (GRCh38)
1:182571554 (GRCh37)
Canonical SPDI:: NC_000001.11:182602418:C:G
Gene:: RGS16 (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182602419C>G, NC_000001.10:g.182571554C>G

Select item 148570943711.

rs1485709437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182605792 (GRCh38)
1:182574927 (GRCh37)
Canonical SPDI:: NC_000001.11:182605791:G:A
Gene:: RGS16 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182605792G>A, NC_000001.10:g.182574927G>A

Select item 148555987412.

rs1485559874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:182600458 (GRCh38)
1:182569593 (GRCh37)
Canonical SPDI:: NC_000001.11:182600457:G:A,NC_000001.11:182600457:G:T
Gene:: RGS16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182600458G>A, NC_000001.11:g.182600458G>T, NC_000001.10:g.182569593G>A, NC_000001.10:g.182569593G>T, NM_002928.4:c.443C>T, NM_002928.4:c.443C>A, NM_002928.3:c.443C>T, NM_002928.3:c.443C>A, XM_024448796.1:c.440C>T, XM_024448796.1:c.440C>A, NP_002919.3:p.Thr148Ile, NP_002919.3:p.Thr148Lys, XP_024304564.1:p.Thr147Ile, XP_024304564.1:p.Thr147Lys

Select item 148551122813.

rs1485511228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182603596 (GRCh38)
1:182572731 (GRCh37)
Canonical SPDI:: NC_000001.11:182603595:G:A
Gene:: RGS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
A=0.00092/15 (TOMMO)
HGVS:: NC_000001.11:g.182603596G>A, NC_000001.10:g.182572731G>A

Select item 148533915214.

rs1485339152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182601949 (GRCh38)
1:182571084 (GRCh37)
Canonical SPDI:: NC_000001.11:182601948:C:T
Gene:: RGS16 (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_000001.11:g.182601949C>T, NC_000001.10:g.182571084C>T

Select item 148379985215.

rs1483799852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182603795 (GRCh38)
1:182572930 (GRCh37)
Canonical SPDI:: NC_000001.11:182603794:C:T
Gene:: RGS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.182603795C>T, NC_000001.10:g.182572930C>T

Select item 148359734516.

rs1483597345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182600196 (GRCh38)
1:182569331 (GRCh37)
Canonical SPDI:: NC_000001.11:182600195:T:C
Gene:: RGS16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.182600196T>C, NC_000001.10:g.182569331T>C, NM_002928.4:c.*96A>G, NM_002928.3:c.*96A>G, XM_024448796.1:c.*96A>G

Select item 148355030417.

rs1483550304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182600580 (GRCh38)
1:182569715 (GRCh37)
Canonical SPDI:: NC_000001.11:182600579:A:G
Gene:: RGS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.182600580A>G, NC_000001.10:g.182569715A>G

Select item 148354467618.

rs1483544676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:182599181 (GRCh38)
1:182568316 (GRCh37)
Canonical SPDI:: NC_000001.11:182599180:G:A,NC_000001.11:182599180:G:T
Gene:: RGS16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182599181G>A, NC_000001.11:g.182599181G>T, NC_000001.10:g.182568316G>A, NC_000001.10:g.182568316G>T, NM_002928.4:c.*1111C>T, NM_002928.4:c.*1111C>A, NM_002928.3:c.*1111C>T, NM_002928.3:c.*1111C>A, XM_024448796.1:c.*1111C>T, XM_024448796.1:c.*1111C>A

Select item 148349935919.

rs1483499359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182603447 (GRCh38)
1:182572582 (GRCh37)
Canonical SPDI:: NC_000001.11:182603446:C:T
Gene:: RGS16 (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_000001.11:g.182603447C>T, NC_000001.10:g.182572582C>T

Select item 148249476920.

rs1482494769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182605843 (GRCh38)
1:182574978 (GRCh37)
Canonical SPDI:: NC_000001.11:182605842:A:G
Gene:: RGS16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000043/6 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.182605843A>G, NC_000001.10:g.182574978A>G

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