SNP Links for Gene (Select 5624) - SNP

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Select item 14914570731.

rs1491457073 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 2:127420812 (GRCh38)
2:128178388 (GRCh37)
Canonical SPDI:: NC_000002.12:127420811:GGGGGG:GGGGG,NC_000002.12:127420811:GGGGGG:GGGGGGG
Gene:: PROC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
G=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.127420817del, NC_000002.12:g.127420817dup, NC_000002.11:g.128178393del, NC_000002.11:g.128178393dup, NG_016323.1:g.7398del, NG_016323.1:g.7398dup

Select item 14912694562.

rs1491269456 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:127420811 (GRCh38)
2:128178387 (GRCh37)
Canonical SPDI:: NC_000002.12:127420810:TG:
Gene:: PROC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127420811_127420812del, NC_000002.11:g.128178387_128178388del, NG_016323.1:g.7392_7393del

Select item 14909387443.

rs1490938744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127417619 (GRCh38)
2:128175195 (GRCh37)
Canonical SPDI:: NC_000002.12:127417618:A:G
Gene:: PROC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127417619A>G, NC_000002.11:g.128175195A>G, NG_016323.1:g.4200A>G

Select item 14906382614.

rs1490638261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127425612 (GRCh38)
2:128183188 (GRCh37)
Canonical SPDI:: NC_000002.12:127425611:G:A
Gene:: PROC (Varview), MIR4783 (Varview), LOC105373608 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_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_000002.12:g.127425612G>A, NC_000002.11:g.128183188G>A, NG_016323.1:g.12193G>A, XR_007087228.1:n.3693C>T

Select item 14903357325.

rs1490335732 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:127425745 (GRCh38)
2:128183321 (GRCh37)
Canonical SPDI:: NC_000002.12:127425744:GGGGG:GGGG
Gene:: PROC (Varview), LOC105373608 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
-=0.000248/4 (TOMMO)
HGVS:: NC_000002.12:g.127425749del, NC_000002.11:g.128183325del, NG_016323.1:g.12330del, XR_007087228.1:n.3560del

Select item 14898613776.

rs1489861377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127424366 (GRCh38)
2:128181942 (GRCh37)
Canonical SPDI:: NC_000002.12:127424365:A:G
Gene:: PROC (Varview), MIR4783 (Varview), LOC105373608 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.127424366A>G, NC_000002.11:g.128181942A>G, NG_016323.1:g.10947A>G

Select item 14896949367.

rs1489694936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127424397 (GRCh38)
2:128181973 (GRCh37)
Canonical SPDI:: NC_000002.12:127424396:C:T
Gene:: PROC (Varview), MIR4783 (Varview), LOC105373608 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127424397C>T, NC_000002.11:g.128181973C>T, NG_016323.1:g.10978C>T

Select item 14895141058.

rs1489514105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:127420814 (GRCh38)
2:128178390 (GRCh37)
Canonical SPDI:: NC_000002.12:127420813:G:C
Gene:: PROC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.127420814G>C, NC_000002.11:g.128178390G>C, NG_016323.1:g.7395G>C

Select item 14892231779.

rs1489223177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127423694 (GRCh38)
2:128181270 (GRCh37)
Canonical SPDI:: NC_000002.12:127423693:A:G
Gene:: PROC (Varview), MIR4783 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127423694A>G, NC_000002.11:g.128181270A>G, NG_016323.1:g.10275A>G

Select item 148903756410.

rs1489037564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:127427730 (GRCh38)
2:128185306 (GRCh37)
Canonical SPDI:: NC_000002.12:127427729:A:C
Gene:: PROC (Varview), LOC105373608 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127427730A>C, NC_000002.11:g.128185306A>C, NG_016323.1:g.14311A>C, XR_007087228.1:n.1575T>G

Select item 148901138711.

rs1489011387 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:127416234 (GRCh38)
2:128173810 (GRCh37)
Canonical SPDI:: NC_000002.12:127416233:GG:G
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000034/9 (TOPMED)
-=0.00046/8 (TOMMO)
-=0.001641/3 (Korea1K)
-=0.004717/1 (Vietnamese)
HGVS:: NC_000002.12:g.127416235del, NC_000002.11:g.128173811del, NG_016323.1:g.2816del

Select item 148894965412.

rs1488949654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127425243 (GRCh38)
2:128182819 (GRCh37)
Canonical SPDI:: NC_000002.12:127425242:C:T
Gene:: PROC (Varview), MIR4783 (Varview), LOC105373608 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127425243C>T, NC_000002.11:g.128182819C>T, NG_016323.1:g.11824C>T, XR_007087228.1:n.4062G>A

Select item 148874057413.

rs1488740574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:127417122 (GRCh38)
2:128174698 (GRCh37)
Canonical SPDI:: NC_000002.12:127417121:A:C
Gene:: PROC (Varview)
Functional Consequence:: 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_000002.12:g.127417122A>C, NC_000002.11:g.128174698A>C, NG_016323.1:g.3703A>C

Select item 148860232214.

rs1488602322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:127423249 (GRCh38)
2:128180825 (GRCh37)
Canonical SPDI:: NC_000002.12:127423248:T:C,NC_000002.12:127423248:T:G
Gene:: PROC (Varview), MIR4783 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000015/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.127423249T>C, NC_000002.12:g.127423249T>G, NC_000002.11:g.128180825T>C, NC_000002.11:g.128180825T>G, NG_016323.1:g.9830T>C, NG_016323.1:g.9830T>G, NM_001375607.1:c.562T>C, NM_001375607.1:c.562T>G, NM_001375605.1:c.478T>C, NM_001375605.1:c.478T>G, NM_001375603.1:c.541T>C, NM_001375603.1:c.541T>G, XM_024453003.2:c.661T>C, XM_024453003.2:c.661T>G, XM_024453003.1:c.661T>C, XM_024453003.1:c.661T>G, XM_024453002.2:c.61T>C, XM_024453002.2:c.61T>G, XM_024453002.1:c.721T>C, XM_024453002.1:c.721T>G, XM_047445117.1:c.565T>C, XM_047445117.1:c.565T>G, XM_047445118.1:c.61T>C, XM_047445118.1:c.61T>G, NP_001362536.1:p.Cys188Arg, NP_001362536.1:p.Cys188Gly, NP_001362534.1:p.Cys160Arg, NP_001362534.1:p.Cys160Gly, NP_001362532.1:p.Cys181Arg, NP_001362532.1:p.Cys181Gly, XP_024308771.1:p.Cys221Arg, XP_024308771.1:p.Cys221Gly, XP_024308770.2:p.Cys21Arg, XP_024308770.2:p.Cys21Gly, XP_047301073.1:p.Cys189Arg, XP_047301073.1:p.Cys189Gly, XP_047301074.1:p.Cys21Arg, XP_047301074.1:p.Cys21Gly

Select item 148827864915.

rs1488278649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:127427812 (GRCh38)
2:128185388 (GRCh37)
Canonical SPDI:: NC_000002.12:127427811:C:A
Gene:: PROC (Varview), LOC105373608 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.127427812C>A, NC_000002.11:g.128185388C>A, NG_016323.1:g.14393C>A, XR_007087228.1:n.1493G>T

Select item 148798510116.

rs1487985101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127419520 (GRCh38)
2:128177096 (GRCh37)
Canonical SPDI:: NC_000002.12:127419519:C:T
Gene:: PROC (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.127419520C>T, NC_000002.11:g.128177096C>T, NG_016323.1:g.6101C>T

Select item 148761571817.

rs1487615718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127419326 (GRCh38)
2:128176902 (GRCh37)
Canonical SPDI:: NC_000002.12:127419325:A:G
Gene:: PROC (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127419326A>G, NC_000002.11:g.128176902A>G, NG_016323.1:g.5907A>G

Select item 148728720818.

rs1487287208 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:127427299 (GRCh38)
2:128184875 (GRCh37)
Canonical SPDI:: NC_000002.12:127427295:GGGGG:GGG
Gene:: PROC (Varview), LOC105373608 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.127427299_127427300del, NC_000002.11:g.128184875_128184876del, NG_016323.1:g.13880_13881del, XR_007087228.1:n.2008_2009del

Select item 148721627319.

rs1487216273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:127429619 (GRCh38)
2:128187195 (GRCh37)
Canonical SPDI:: NC_000002.12:127429618:G:A,NC_000002.12:127429618:G:T
Gene:: PROC (Varview), LOC105373608 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.127429619G>A, NC_000002.12:g.127429619G>T, NC_000002.11:g.128187195G>A, NC_000002.11:g.128187195G>T, NG_016323.1:g.16200G>A, NG_016323.1:g.16200G>T

Select item 148664602420.

rs1486646024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127421258 (GRCh38)
2:128178834 (GRCh37)
Canonical SPDI:: NC_000002.12:127421257:G:A
Gene:: PROC (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.127421258G>A, NC_000002.11:g.128178834G>A, NG_016323.1:g.7839G>A

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