SNP Links for Gene (Select 6746) - SNP

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Select item 14914000981.

rs1491400098 has merged into rs1553254277 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 1:156015549 (GRCh38)
1:155985340 (GRCh37)
Canonical SPDI:: NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:156015535:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: SSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.156015537TA[6], NC_000001.11:g.156015537TA[7], NC_000001.11:g.156015537TA[8], NC_000001.11:g.156015537TA[9], NC_000001.11:g.156015537TA[10], NC_000001.11:g.156015537TA[12], NC_000001.11:g.156015537TA[13], NC_000001.11:g.156015537TA[14], NC_000001.11:g.156015537TA[16], NC_000001.11:g.156015537TA[17], NC_000001.11:g.156015537TA[18], NC_000001.11:g.156015537TA[19], NC_000001.11:g.156015537TA[22], NC_000001.11:g.156015537TA[23], NC_000001.10:g.155985328TA[6], NC_000001.10:g.155985328TA[7], NC_000001.10:g.155985328TA[8], NC_000001.10:g.155985328TA[9], NC_000001.10:g.155985328TA[10], NC_000001.10:g.155985328TA[12], NC_000001.10:g.155985328TA[13], NC_000001.10:g.155985328TA[14], NC_000001.10:g.155985328TA[16], NC_000001.10:g.155985328TA[17], NC_000001.10:g.155985328TA[18], NC_000001.10:g.155985328TA[19], NC_000001.10:g.155985328TA[22], NC_000001.10:g.155985328TA[23]

Select item 14913296302.

rs1491329630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATAT [Show Flanks]
Chromosome:: 1:156015536 (GRCh38)
1:155985328 (GRCh37)
Canonical SPDI:: NC_000001.11:156015536:TATATAT:TATATATGTATATAT
Gene:: SSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATGTATATAT=0./0 (ALFA)
TATATATG=0.00003/1 (GnomAD)
HGVS:: NC_000001.11:g.156015537_156015543TA[3]TGTATATAT[1], NC_000001.10:g.155985328_155985334TA[3]TGTATATAT[1]

Select item 14909712343.

rs1490971234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:156022366 (GRCh38)
1:155992157 (GRCh37)
Canonical SPDI:: NC_000001.11:156022365:G:T
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.156022366G>T, NC_000001.10:g.155992157G>T

Select item 14907187194.

rs1490718719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156018976 (GRCh38)
1:155988767 (GRCh37)
Canonical SPDI:: NC_000001.11:156018975:A:G
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156018976A>G, NC_000001.10:g.155988767A>G

Select item 14905791935.

rs1490579193 has merged into rs757236241 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:156017751 (GRCh38)
1:155987542 (GRCh37)
Canonical SPDI:: NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:156017739:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.156017751_156017768del, NC_000001.11:g.156017753_156017768del, NC_000001.11:g.156017754_156017768del, NC_000001.11:g.156017755_156017768del, NC_000001.11:g.156017756_156017768del, NC_000001.11:g.156017757_156017768del, NC_000001.11:g.156017758_156017768del, NC_000001.11:g.156017759_156017768del, NC_000001.11:g.156017760_156017768del, NC_000001.11:g.156017761_156017768del, NC_000001.11:g.156017762_156017768del, NC_000001.11:g.156017763_156017768del, NC_000001.11:g.156017764_156017768del, NC_000001.11:g.156017765_156017768del, NC_000001.11:g.156017766_156017768del, NC_000001.11:g.156017767_156017768del, NC_000001.11:g.156017768del, NC_000001.11:g.156017768dup, NC_000001.11:g.156017767_156017768dup, NC_000001.11:g.156017766_156017768dup, NC_000001.11:g.156017765_156017768dup, NC_000001.11:g.156017764_156017768dup, NC_000001.11:g.156017763_156017768dup, NC_000001.11:g.156017762_156017768dup, NC_000001.11:g.156017761_156017768dup, NC_000001.11:g.156017760_156017768dup, NC_000001.11:g.156017758_156017768dup, NC_000001.11:g.156017757_156017768dup, NC_000001.11:g.156017755_156017768dup, NC_000001.11:g.156017754_156017768dup, NC_000001.11:g.156017753_156017768dup, NC_000001.11:g.156017752_156017768dup, NC_000001.11:g.156017749_156017768dup, NC_000001.11:g.156017743_156017768dup, NC_000001.10:g.155987542_155987559del, NC_000001.10:g.155987544_155987559del, NC_000001.10:g.155987545_155987559del, NC_000001.10:g.155987546_155987559del, NC_000001.10:g.155987547_155987559del, NC_000001.10:g.155987548_155987559del, NC_000001.10:g.155987549_155987559del, NC_000001.10:g.155987550_155987559del, NC_000001.10:g.155987551_155987559del, NC_000001.10:g.155987552_155987559del, NC_000001.10:g.155987553_155987559del, NC_000001.10:g.155987554_155987559del, NC_000001.10:g.155987555_155987559del, NC_000001.10:g.155987556_155987559del, NC_000001.10:g.155987557_155987559del, NC_000001.10:g.155987558_155987559del, NC_000001.10:g.155987559del, NC_000001.10:g.155987559dup, NC_000001.10:g.155987558_155987559dup, NC_000001.10:g.155987557_155987559dup, NC_000001.10:g.155987556_155987559dup, NC_000001.10:g.155987555_155987559dup, NC_000001.10:g.155987554_155987559dup, NC_000001.10:g.155987553_155987559dup, NC_000001.10:g.155987552_155987559dup, NC_000001.10:g.155987551_155987559dup, NC_000001.10:g.155987549_155987559dup, NC_000001.10:g.155987548_155987559dup, NC_000001.10:g.155987546_155987559dup, NC_000001.10:g.155987545_155987559dup, NC_000001.10:g.155987544_155987559dup, NC_000001.10:g.155987543_155987559dup, NC_000001.10:g.155987540_155987559dup, NC_000001.10:g.155987534_155987559dup

Select item 14904492246.

rs1490449224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156021228 (GRCh38)
1:155991019 (GRCh37)
Canonical SPDI:: NC_000001.11:156021227:C:T
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156021228C>T, NC_000001.10:g.155991019C>T

Select item 14902913617.

rs1490291361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156009719 (GRCh38)
1:155979510 (GRCh37)
Canonical SPDI:: NC_000001.11:156009718:G:A
Gene:: SSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156009719G>A, NC_000001.10:g.155979510G>A

Select item 14897428078.

rs1489742807 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 1:156017747 (GRCh38)
1:155987539 (GRCh37)
Canonical SPDI:: NC_000001.11:156017747:TT:TTGTT
Gene:: SSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGTT=0.000169/2 (ALFA)
TTG=0.000124/13 (GnomAD)
HGVS:: NC_000001.11:g.156017749_156017750insGTT, NC_000001.10:g.155987540_155987541insGTT

Select item 14897190689.

rs1489719068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:156018099 (GRCh38)
1:155987890 (GRCh37)
Canonical SPDI:: NC_000001.11:156018098:A:T
Gene:: SSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156018099A>T, NC_000001.10:g.155987890A>T

Select item 148959581810.

rs1489595818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:156015022 (GRCh38)
1:155984813 (GRCh37)
Canonical SPDI:: NC_000001.11:156015021:C:A,NC_000001.11:156015021:C:T
Gene:: SSR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156015022C>A, NC_000001.11:g.156015022C>T, NC_000001.10:g.155984813C>A, NC_000001.10:g.155984813C>T, NM_003145.4:c.302G>T, NM_003145.4:c.302G>A, NM_003145.3:c.302G>T, NM_003145.3:c.302G>A, NP_003136.1:p.Gly101Val, NP_003136.1:p.Gly101Asp

Select item 148957248111.

rs1489572481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156014964 (GRCh38)
1:155984755 (GRCh37)
Canonical SPDI:: NC_000001.11:156014963:A:G
Gene:: SSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156014964A>G, NC_000001.10:g.155984755A>G, NM_003145.4:c.360T>C, NM_003145.3:c.360T>C

Select item 148913928012.

rs1489139280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:156018968 (GRCh38)
1:155988759 (GRCh37)
Canonical SPDI:: NC_000001.11:156018967:G:C
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156018968G>C, NC_000001.10:g.155988759G>C

Select item 148900191713.

rs1489001917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:156014275 (GRCh38)
1:155984066 (GRCh37)
Canonical SPDI:: NC_000001.11:156014274:C:A
Gene:: SSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156014275C>A, NC_000001.10:g.155984066C>A

Select item 148852973814.

rs1488529738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156019724 (GRCh38)
1:155989515 (GRCh37)
Canonical SPDI:: NC_000001.11:156019723:G:A
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.156019724G>A, NC_000001.10:g.155989515G>A

Select item 148833973515.

rs1488339735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156020351 (GRCh38)
1:155990142 (GRCh37)
Canonical SPDI:: NC_000001.11:156020350:A:G
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.156020351A>G, NC_000001.10:g.155990142A>G

Select item 148825106216.

rs1488251062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156016499 (GRCh38)
1:155986290 (GRCh37)
Canonical SPDI:: NC_000001.11:156016498:G:A
Gene:: SSR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.156016499G>A, NC_000001.10:g.155986290G>A

Select item 148814515817.

rs1488145158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156020437 (GRCh38)
1:155990228 (GRCh37)
Canonical SPDI:: NC_000001.11:156020436:C:T
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_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=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.156020437C>T, NC_000001.10:g.155990228C>T

Select item 148796008918.

rs1487960089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156019223 (GRCh38)
1:155989014 (GRCh37)
Canonical SPDI:: NC_000001.11:156019222:A:G
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156019223A>G, NC_000001.10:g.155989014A>G

Select item 148762919919.

rs1487629199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:156020277 (GRCh38)
1:155990068 (GRCh37)
Canonical SPDI:: NC_000001.11:156020276:C:A
Gene:: SSR2 (Varview), LOC105371729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.156020277C>A, NC_000001.10:g.155990068C>A

Select item 148762495920.

rs1487624959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:156011883 (GRCh38)
1:155981674 (GRCh37)
Canonical SPDI:: NC_000001.11:156011882:C:G
Gene:: SSR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156011883C>G, NC_000001.10:g.155981674C>G, NM_003145.4:c.368G>C, NM_003145.3:c.368G>C, NP_003136.1:p.Gly123Ala

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