SNP Links for Nucleotide (Select 189083760) - SNP

Select item 14898895341.

rs1489889534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162153861 (GRCh38)
5:161580867 (GRCh37)
Canonical SPDI:: NC_000005.10:162153860:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.162153861A>G, NC_000005.9:g.161580867A>G, NG_009290.1:g.91220A>G, NM_198904.4:c.*493A>G, NM_198904.3:c.*493A>G, NM_198904.2:c.*493A>G, NM_000816.3:c.*493A>G, NM_198903.2:c.*493A>G, NM_001375349.1:c.*493A>G, NM_001375343.1:c.*493A>G, NM_001375344.1:c.*493A>G, NM_001375341.1:c.*493A>G, NM_001375339.1:c.*493A>G, NM_001375342.1:c.*493A>G, NM_001375350.1:c.*493A>G, NM_001375348.1:c.*493A>G, NM_001375340.1:c.*755A>G, NM_001375346.1:c.*493A>G, NM_001375345.1:c.*493A>G, NM_001375347.1:c.*493A>G

Select item 14891903542.

rs1489190354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:162153115 (GRCh38)
5:161580121 (GRCh37)
Canonical SPDI:: NC_000005.10:162153114:C:T
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.162153115C>T, NC_000005.9:g.161580121C>T, NG_009290.1:g.90474C>T, NM_198904.4:c.1175C>T, NM_198904.3:c.1175C>T, NM_198904.2:c.1175C>T, NM_000816.3:c.1151C>T, NM_198903.2:c.1295C>T, NM_001375349.1:c.866C>T, NM_001375343.1:c.1271C>T, NM_001375344.1:c.1214C>T, NM_001375341.1:c.1172C>T, NM_001375339.1:c.1166C>T, NM_001375342.1:c.1148C>T, NM_001375350.1:c.755C>T, NM_001375348.1:c.731C>T, NM_001375340.1:c.*9C>T, NM_001375346.1:c.1109C>T, NM_001375345.1:c.1085C>T, NM_001375347.1:c.1088C>T, NP_944494.1:p.Pro392Leu, NP_000807.2:p.Pro384Leu, NP_944493.2:p.Pro432Leu, NP_001362278.1:p.Pro289Leu, NP_001362272.1:p.Pro424Leu, NP_001362273.1:p.Pro405Leu, NP_001362270.1:p.Pro391Leu, NP_001362268.1:p.Pro389Leu, NP_001362271.1:p.Pro383Leu, NP_001362279.1:p.Pro252Leu, NP_001362277.1:p.Pro244Leu, NP_001362275.1:p.Pro370Leu, NP_001362274.1:p.Pro362Leu, NP_001362276.1:p.Pro363Leu

Select item 14891586563.

rs1489158656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:162149129 (GRCh38)
5:161576135 (GRCh37)
Canonical SPDI:: NC_000005.10:162149128:T:C
Gene:: GABRG2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.162149129T>C, NC_000005.9:g.161576135T>C, NG_009290.1:g.86488T>C, NM_198904.4:c.944T>C, NM_198904.3:c.944T>C, NM_198904.2:c.944T>C, NM_000816.3:c.944T>C, NM_198903.2:c.1064T>C, NM_001375349.1:c.659T>C, NM_001375343.1:c.1064T>C, NM_001375344.1:c.983T>C, NM_001375341.1:c.941T>C, NM_001375339.1:c.935T>C, NM_001375342.1:c.941T>C, NM_001375350.1:c.524T>C, NM_001375348.1:c.524T>C, NM_001375346.1:c.878T>C, NM_001375345.1:c.878T>C, NM_001375347.1:c.857T>C, NP_944494.1:p.Met315Thr, NP_000807.2:p.Met315Thr, NP_944493.2:p.Met355Thr, NP_001362278.1:p.Met220Thr, NP_001362272.1:p.Met355Thr, NP_001362273.1:p.Met328Thr, NP_001362270.1:p.Met314Thr, NP_001362268.1:p.Met312Thr, NP_001362271.1:p.Met314Thr, NP_001362279.1:p.Met175Thr, NP_001362277.1:p.Met175Thr, NP_001362275.1:p.Met293Thr, NP_001362274.1:p.Met293Thr, NP_001362276.1:p.Met286Thr

Select item 14866436934.

rs1486643693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:162154853 (GRCh38)
5:161581859 (GRCh37)
Canonical SPDI:: NC_000005.10:162154852:T:C
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000005.10:g.162154853T>C, NC_000005.9:g.161581859T>C, NG_009290.1:g.92212T>C, NM_198904.4:c.*1485T>C, NM_198904.3:c.*1485T>C, NM_198904.2:c.*1485T>C, NM_000816.3:c.*1485T>C, NM_198903.2:c.*1485T>C, NM_001375349.1:c.*1485T>C, NM_001375343.1:c.*1485T>C, NM_001375344.1:c.*1485T>C, NM_001375341.1:c.*1485T>C, NM_001375339.1:c.*1485T>C, NM_001375342.1:c.*1485T>C, NM_001375350.1:c.*1485T>C, NM_001375348.1:c.*1485T>C, NM_001375340.1:c.*1747T>C, NM_001375346.1:c.*1485T>C, NM_001375345.1:c.*1485T>C, NM_001375347.1:c.*1485T>C

Select item 14866265785.

rs1486626578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:162154237 (GRCh38)
5:161581243 (GRCh37)
Canonical SPDI:: NC_000005.10:162154236:G:A
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.162154237G>A, NC_000005.9:g.161581243G>A, NG_009290.1:g.91596G>A, NM_198904.4:c.*869G>A, NM_198904.3:c.*869G>A, NM_198904.2:c.*869G>A, NM_000816.3:c.*869G>A, NM_198903.2:c.*869G>A, NM_001375349.1:c.*869G>A, NM_001375343.1:c.*869G>A, NM_001375344.1:c.*869G>A, NM_001375341.1:c.*869G>A, NM_001375339.1:c.*869G>A, NM_001375342.1:c.*869G>A, NM_001375350.1:c.*869G>A, NM_001375348.1:c.*869G>A, NM_001375340.1:c.*1131G>A, NM_001375346.1:c.*869G>A, NM_001375345.1:c.*869G>A, NM_001375347.1:c.*869G>A

Select item 14830187406.

rs1483018740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162154721 (GRCh38)
5:161581727 (GRCh37)
Canonical SPDI:: NC_000005.10:162154720:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.162154721A>G, NC_000005.9:g.161581727A>G, NG_009290.1:g.92080A>G, NM_198904.4:c.*1353A>G, NM_198904.3:c.*1353A>G, NM_198904.2:c.*1353A>G, NM_000816.3:c.*1353A>G, NM_198903.2:c.*1353A>G, NM_001375349.1:c.*1353A>G, NM_001375343.1:c.*1353A>G, NM_001375344.1:c.*1353A>G, NM_001375341.1:c.*1353A>G, NM_001375339.1:c.*1353A>G, NM_001375342.1:c.*1353A>G, NM_001375350.1:c.*1353A>G, NM_001375348.1:c.*1353A>G, NM_001375340.1:c.*1615A>G, NM_001375346.1:c.*1353A>G, NM_001375345.1:c.*1353A>G, NM_001375347.1:c.*1353A>G

Select item 14829486557.

rs1482948655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162154304 (GRCh38)
5:161581310 (GRCh37)
Canonical SPDI:: NC_000005.10:162154303:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.162154304A>G, NC_000005.9:g.161581310A>G, NG_009290.1:g.91663A>G, NM_198904.4:c.*936A>G, NM_198904.3:c.*936A>G, NM_198904.2:c.*936A>G, NM_000816.3:c.*936A>G, NM_198903.2:c.*936A>G, NM_001375349.1:c.*936A>G, NM_001375343.1:c.*936A>G, NM_001375344.1:c.*936A>G, NM_001375341.1:c.*936A>G, NM_001375339.1:c.*936A>G, NM_001375342.1:c.*936A>G, NM_001375350.1:c.*936A>G, NM_001375348.1:c.*936A>G, NM_001375340.1:c.*1198A>G, NM_001375346.1:c.*936A>G, NM_001375345.1:c.*936A>G, NM_001375347.1:c.*936A>G

Select item 14816400258.

rs1481640025 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:162068042 (GRCh38)
5:161495048 (GRCh37)
Canonical SPDI:: NC_000005.10:162068041:T:
Gene:: GABRG2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.162068042del, NC_000005.9:g.161495048del, NG_009290.1:g.5401del, NM_198904.4:c.43del, NM_198904.3:c.43del, NM_198904.2:c.43del, NM_000816.3:c.43del, NM_198903.2:c.43del, NM_001375349.1:c.-364del, NM_001375343.1:c.43del, NM_001375344.1:c.43del, NM_001375341.1:c.43del, NM_001375339.1:c.43del, NM_001375342.1:c.43del, NM_001375350.1:c.-316del, NM_001375348.1:c.-316del, NM_001375340.1:c.43del, NP_944494.1:p.Ser15fs, NP_000807.2:p.Ser15fs, NP_944493.2:p.Ser15fs, NP_001362272.1:p.Ser15fs, NP_001362273.1:p.Ser15fs, NP_001362270.1:p.Ser15fs, NP_001362268.1:p.Ser15fs, NP_001362271.1:p.Ser15fs, NP_001362269.1:p.Ser15fs

Select item 14808826979.

rs1480882697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162154379 (GRCh38)
5:161581385 (GRCh37)
Canonical SPDI:: NC_000005.10:162154378:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
G=0.000057/15 (TOPMED)
G=0.004673/1 (Vietnamese)
HGVS:: NC_000005.10:g.162154379A>G, NC_000005.9:g.161581385A>G, NG_009290.1:g.91738A>G, NM_198904.4:c.*1011A>G, NM_198904.3:c.*1011A>G, NM_198904.2:c.*1011A>G, NM_000816.3:c.*1011A>G, NM_198903.2:c.*1011A>G, NM_001375349.1:c.*1011A>G, NM_001375343.1:c.*1011A>G, NM_001375344.1:c.*1011A>G, NM_001375341.1:c.*1011A>G, NM_001375339.1:c.*1011A>G, NM_001375342.1:c.*1011A>G, NM_001375350.1:c.*1011A>G, NM_001375348.1:c.*1011A>G, NM_001375340.1:c.*1273A>G, NM_001375346.1:c.*1011A>G, NM_001375345.1:c.*1011A>G, NM_001375347.1:c.*1011A>G

Select item 148054799810.

rs1480547998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:162153646 (GRCh38)
5:161580652 (GRCh37)
Canonical SPDI:: NC_000005.10:162153645:G:A,NC_000005.10:162153645:G:T
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.162153646G>A, NC_000005.10:g.162153646G>T, NC_000005.9:g.161580652G>A, NC_000005.9:g.161580652G>T, NG_009290.1:g.91005G>A, NG_009290.1:g.91005G>T, NM_198904.4:c.*278G>A, NM_198904.4:c.*278G>T, NM_198904.3:c.*278G>A, NM_198904.3:c.*278G>T, NM_198904.2:c.*278G>A, NM_198904.2:c.*278G>T, NM_000816.3:c.*278G>A, NM_000816.3:c.*278G>T, NM_198903.2:c.*278G>A, NM_198903.2:c.*278G>T, NM_001375349.1:c.*278G>A, NM_001375349.1:c.*278G>T, NM_001375343.1:c.*278G>A, NM_001375343.1:c.*278G>T, NM_001375344.1:c.*278G>A, NM_001375344.1:c.*278G>T, NM_001375341.1:c.*278G>A, NM_001375341.1:c.*278G>T, NM_001375339.1:c.*278G>A, NM_001375339.1:c.*278G>T, NM_001375342.1:c.*278G>A, NM_001375342.1:c.*278G>T, NM_001375350.1:c.*278G>A, NM_001375350.1:c.*278G>T, NM_001375348.1:c.*278G>A, NM_001375348.1:c.*278G>T, NM_001375340.1:c.*540G>A, NM_001375340.1:c.*540G>T, NM_001375346.1:c.*278G>A, NM_001375346.1:c.*278G>T, NM_001375345.1:c.*278G>A, NM_001375345.1:c.*278G>T, NM_001375347.1:c.*278G>A, NM_001375347.1:c.*278G>T

Select item 147855675611.

rs1478556756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:162067804 (GRCh38)
5:161494810 (GRCh37)
Canonical SPDI:: NC_000005.10:162067803:C:A,NC_000005.10:162067803:C:T
Gene:: GABRG2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.162067804C>A, NC_000005.10:g.162067804C>T, NC_000005.9:g.161494810C>A, NC_000005.9:g.161494810C>T, NG_009290.1:g.5163C>A, NG_009290.1:g.5163C>T, NM_198904.4:c.-196C>A, NM_198904.4:c.-196C>T, NM_198904.3:c.-196C>A, NM_198904.3:c.-196C>T, NM_198904.2:c.-196C>A, NM_198904.2:c.-196C>T, NM_000816.3:c.-196C>A, NM_000816.3:c.-196C>T, NM_198903.2:c.-196C>A, NM_198903.2:c.-196C>T, NM_001375349.1:c.-602C>A, NM_001375349.1:c.-602C>T, NM_001375343.1:c.-196C>A, NM_001375343.1:c.-196C>T, NM_001375344.1:c.-196C>A, NM_001375344.1:c.-196C>T, NM_001375341.1:c.-196C>A, NM_001375341.1:c.-196C>T, NM_001375339.1:c.-196C>A, NM_001375339.1:c.-196C>T, NM_001375342.1:c.-196C>A, NM_001375342.1:c.-196C>T, NM_001375350.1:c.-554C>A, NM_001375350.1:c.-554C>T, NM_001375348.1:c.-554C>A, NM_001375348.1:c.-554C>T, NM_001375340.1:c.-196C>A, NM_001375340.1:c.-196C>T

Select item 147653486412.

rs1476534864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162142246 (GRCh38)
5:161569252 (GRCh37)
Canonical SPDI:: NC_000005.10:162142245:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.162142246A>G, NC_000005.9:g.161569252A>G, NG_009290.1:g.79605A>G, NM_198904.4:c.852A>G, NM_198904.3:c.852A>G, NM_198904.2:c.852A>G, NM_000816.3:c.852A>G, NM_198903.2:c.972A>G, NM_001375349.1:c.567A>G, NM_001375343.1:c.972A>G, NM_001375344.1:c.891A>G, NM_001375341.1:c.849A>G, NM_001375339.1:c.843A>G, NM_001375342.1:c.849A>G, NM_001375350.1:c.432A>G, NM_001375348.1:c.432A>G, NM_001375340.1:c.852A>G, NM_001375346.1:c.786A>G, NM_001375345.1:c.786A>G, NM_001375347.1:c.765A>G

Select item 147615122313.

rs1476151223 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCT>- [Show Flanks]
Chromosome:: 5:162155445 (GRCh38)
5:161582451 (GRCh37)
Canonical SPDI:: NC_000005.10:162155442:CTGTCT:CT
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.162155445_162155448del, NC_000005.9:g.161582451_161582454del, NG_009290.1:g.92804_92807del, NM_198904.4:c.*2077_*2080del, NM_198904.3:c.*2077_*2080del, NM_198904.2:c.*2077_*2080del, NM_000816.3:c.*2077_*2080del, NM_198903.2:c.*2077_*2080del, NM_001375349.1:c.*2077_*2080del, NM_001375343.1:c.*2077_*2080del, NM_001375344.1:c.*2077_*2080del, NM_001375341.1:c.*2077_*2080del, NM_001375339.1:c.*2077_*2080del, NM_001375342.1:c.*2077_*2080del, NM_001375350.1:c.*2077_*2080del, NM_001375348.1:c.*2077_*2080del, NM_001375340.1:c.*2339_*2342del, NM_001375346.1:c.*2077_*2080del, NM_001375345.1:c.*2077_*2080del, NM_001375347.1:c.*2077_*2080del

Select item 147610178114.

rs1476101781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162154296 (GRCh38)
5:161581302 (GRCh37)
Canonical SPDI:: NC_000005.10:162154295:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.162154296A>G, NC_000005.9:g.161581302A>G, NG_009290.1:g.91655A>G, NM_198904.4:c.*928A>G, NM_198904.3:c.*928A>G, NM_198904.2:c.*928A>G, NM_000816.3:c.*928A>G, NM_198903.2:c.*928A>G, NM_001375349.1:c.*928A>G, NM_001375343.1:c.*928A>G, NM_001375344.1:c.*928A>G, NM_001375341.1:c.*928A>G, NM_001375339.1:c.*928A>G, NM_001375342.1:c.*928A>G, NM_001375350.1:c.*928A>G, NM_001375348.1:c.*928A>G, NM_001375340.1:c.*1190A>G, NM_001375346.1:c.*928A>G, NM_001375345.1:c.*928A>G, NM_001375347.1:c.*928A>G

Select item 147587568215.

rs1475875682 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:162067778 (GRCh38)
5:161494784 (GRCh37)
Canonical SPDI:: NC_000005.10:162067775:AGAG:AG
Gene:: GABRG2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.162067776AG[1], NC_000005.9:g.161494782AG[1], NG_009290.1:g.5135AG[1], NM_198904.4:c.-224AG[1], NM_198904.3:c.-224AG[1], NM_198904.2:c.-224AG[1], NM_000816.3:c.-224AG[1], NM_198903.2:c.-224AG[1], NM_001375349.1:c.-630AG[1], NM_001375343.1:c.-224AG[1], NM_001375344.1:c.-224AG[1], NM_001375341.1:c.-224AG[1], NM_001375339.1:c.-224AG[1], NM_001375342.1:c.-224AG[1], NM_001375350.1:c.-582AG[1], NM_001375348.1:c.-582AG[1], NM_001375340.1:c.-224AG[1]

Select item 147447538116.

rs1474475381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162153837 (GRCh38)
5:161580843 (GRCh37)
Canonical SPDI:: NC_000005.10:162153836:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.162153837A>G, NC_000005.9:g.161580843A>G, NG_009290.1:g.91196A>G, NM_198904.4:c.*469A>G, NM_198904.3:c.*469A>G, NM_198904.2:c.*469A>G, NM_000816.3:c.*469A>G, NM_198903.2:c.*469A>G, NM_001375349.1:c.*469A>G, NM_001375343.1:c.*469A>G, NM_001375344.1:c.*469A>G, NM_001375341.1:c.*469A>G, NM_001375339.1:c.*469A>G, NM_001375342.1:c.*469A>G, NM_001375350.1:c.*469A>G, NM_001375348.1:c.*469A>G, NM_001375340.1:c.*731A>G, NM_001375346.1:c.*469A>G, NM_001375345.1:c.*469A>G, NM_001375347.1:c.*469A>G

Select item 147418474017.

rs1474184740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:162154799 (GRCh38)
5:161581805 (GRCh37)
Canonical SPDI:: NC_000005.10:162154798:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.162154799A>G, NC_000005.9:g.161581805A>G, NG_009290.1:g.92158A>G, NM_198904.4:c.*1431A>G, NM_198904.3:c.*1431A>G, NM_198904.2:c.*1431A>G, NM_000816.3:c.*1431A>G, NM_198903.2:c.*1431A>G, NM_001375349.1:c.*1431A>G, NM_001375343.1:c.*1431A>G, NM_001375344.1:c.*1431A>G, NM_001375341.1:c.*1431A>G, NM_001375339.1:c.*1431A>G, NM_001375342.1:c.*1431A>G, NM_001375350.1:c.*1431A>G, NM_001375348.1:c.*1431A>G, NM_001375340.1:c.*1693A>G, NM_001375346.1:c.*1431A>G, NM_001375345.1:c.*1431A>G, NM_001375347.1:c.*1431A>G

Select item 147254868218.

rs1472548682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:162155449 (GRCh38)
5:161582455 (GRCh37)
Canonical SPDI:: NC_000005.10:162155448:A:C,NC_000005.10:162155448:A:G
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.162155449A>C, NC_000005.10:g.162155449A>G, NC_000005.9:g.161582455A>C, NC_000005.9:g.161582455A>G, NG_009290.1:g.92808A>C, NG_009290.1:g.92808A>G, NM_198904.4:c.*2081A>C, NM_198904.4:c.*2081A>G, NM_198904.3:c.*2081A>C, NM_198904.3:c.*2081A>G, NM_198904.2:c.*2081A>C, NM_198904.2:c.*2081A>G, NM_000816.3:c.*2081A>C, NM_000816.3:c.*2081A>G, NM_198903.2:c.*2081A>C, NM_198903.2:c.*2081A>G, NM_001375349.1:c.*2081A>C, NM_001375349.1:c.*2081A>G, NM_001375343.1:c.*2081A>C, NM_001375343.1:c.*2081A>G, NM_001375344.1:c.*2081A>C, NM_001375344.1:c.*2081A>G, NM_001375341.1:c.*2081A>C, NM_001375341.1:c.*2081A>G, NM_001375339.1:c.*2081A>C, NM_001375339.1:c.*2081A>G, NM_001375342.1:c.*2081A>C, NM_001375342.1:c.*2081A>G, NM_001375350.1:c.*2081A>C, NM_001375350.1:c.*2081A>G, NM_001375348.1:c.*2081A>C, NM_001375348.1:c.*2081A>G, NM_001375340.1:c.*2343A>C, NM_001375340.1:c.*2343A>G, NM_001375346.1:c.*2081A>C, NM_001375346.1:c.*2081A>G, NM_001375345.1:c.*2081A>C, NM_001375345.1:c.*2081A>G, NM_001375347.1:c.*2081A>C, NM_001375347.1:c.*2081A>G

Select item 147250268119.

rs1472502681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:162154835 (GRCh38)
5:161581841 (GRCh37)
Canonical SPDI:: NC_000005.10:162154834:A:T
Gene:: GABRG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.162154835A>T, NC_000005.9:g.161581841A>T, NG_009290.1:g.92194A>T, NM_198904.4:c.*1467A>T, NM_198904.3:c.*1467A>T, NM_198904.2:c.*1467A>T, NM_000816.3:c.*1467A>T, NM_198903.2:c.*1467A>T, NM_001375349.1:c.*1467A>T, NM_001375343.1:c.*1467A>T, NM_001375344.1:c.*1467A>T, NM_001375341.1:c.*1467A>T, NM_001375339.1:c.*1467A>T, NM_001375342.1:c.*1467A>T, NM_001375350.1:c.*1467A>T, NM_001375348.1:c.*1467A>T, NM_001375340.1:c.*1729A>T, NM_001375346.1:c.*1467A>T, NM_001375345.1:c.*1467A>T, NM_001375347.1:c.*1467A>T

Select item 147200920120.

rs1472009201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:162142172 (GRCh38)
5:161569178 (GRCh37)
Canonical SPDI:: NC_000005.10:162142171:G:T
Gene:: GABRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.162142172G>T, NC_000005.9:g.161569178G>T, NG_009290.1:g.79531G>T, NM_198904.4:c.778G>T, NM_198904.3:c.778G>T, NM_198904.2:c.778G>T, NM_000816.3:c.778G>T, NM_198903.2:c.898G>T, NM_001375349.1:c.493G>T, NM_001375343.1:c.898G>T, NM_001375344.1:c.817G>T, NM_001375341.1:c.775G>T, NM_001375339.1:c.769G>T, NM_001375342.1:c.775G>T, NM_001375350.1:c.358G>T, NM_001375348.1:c.358G>T, NM_001375340.1:c.778G>T, NM_001375346.1:c.712G>T, NM_001375345.1:c.712G>T, NM_001375347.1:c.691G>T, NP_944494.1:p.Val260Leu, NP_000807.2:p.Val260Leu, NP_944493.2:p.Val300Leu, NP_001362278.1:p.Val165Leu, NP_001362272.1:p.Val300Leu, NP_001362273.1:p.Val273Leu, NP_001362270.1:p.Val259Leu, NP_001362268.1:p.Val257Leu, NP_001362271.1:p.Val259Leu, NP_001362279.1:p.Val120Leu, NP_001362277.1:p.Val120Leu, NP_001362269.1:p.Val260Leu, NP_001362275.1:p.Val238Leu, NP_001362274.1:p.Val238Leu, NP_001362276.1:p.Val231Leu

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